Table 2.
SLC12A3 mutations by WES and corroborated sanger sequencing in patients with clinically diagnosed GS.
| Location (Exon) | Variations | Protein change | Source of variation | ACMG evidence | Type of mutation | References | |
|---|---|---|---|---|---|---|---|
| 1st | 3 | c.C488T* | p.T163M | Mother | Pathogenic | Missense | (10) |
| 22 | c.G2612A* | p.R871H | Mother | Pathogenic | Missense | (11) | |
| 8 | c.965-1G>A* | Father | Pathogenic | Splicing | (12) | ||
| 8 | c.C969A* | p.D323E | Father | Pathogenic | Missense | Novel | |
| 8 | c.T971A* | p.I324N | Father | Pathogenic | Missense | Novel | |
| 2nd | 1 | c.C179T* | p.T60M | Father | Pathogenic | Missense | (13) |
| 17 | c.C2129A* | p.S710* | Mother | Pathogenic | Non-sense | (14) | |
| 3rd | 24 | c.2883+1G>A* | Father | Pathogenic | Splicing | (15) | |
| 1 | c.C179T* | p.T60M | Mother | Pathogenic | Missense | (13) | |
| 4th | 1 | c.C179T* | p.T60M | Father | Pathogenic | Missense | (13) |
| 17 | c.C2129A* | p.S710* | Mother | Pathogenic | Non-sense | (14) | |
| 5th | 1 | c.C179T** | p.T60M | Mother | Pathogenic | Missense | (13) |
| 6th | 3 | c.G473A* | p.R158Q | Father | Pathogenic | Missense | (10) |
| 8 | c. C1000T* | p.R334W | Mother | Likely pathogenic | Missense | (16) | |
| 7th | 12 | c.G1456A* | p.D486N | Father | Likely pathogenic | Missense | (17) |
| 16 | c.G2029A* | p.V677M | Mother | Likely pathogenic | Missense | (10) | |
| 8th | 17 | c.C2129A** | p.S710X | Pathogenic | Non-sense | (14) | |
| 9th | 17 | c.C2129A** | p.S710X | Pathogenic | Non-sense | (14) | |
| 10th | 3 | c.G473A* | p.R158Q | Father | Pathogenic | Missense | (10) |
| Intron 4 | c.602-16G>A* | Mother | Likely pathogenic | Splicing | (15) | ||
| 11th | 12 | c.G1456A* | p.D486N | Father | Pathogenic | Missense | (17) |
| 8 | c.965-1G>A* | Mother | Pathogenic | Splicing | (12) | ||
| 12th | 4 | c.506-1G>A* | Father | Pathogenic | Splicing | (18) | |
| 7 | c.C991T* | p.T304M | Mother | Pathogenic | Missense | (19) | |
| 13th | 11 | c.1378delG* | p.G460Afs*32 | Mother | Pathogenic | Frameshift | (20) |
| 14th | 1 | c.C179T* | p.T60M | Mother | Pathogenic | Missense | (13) |
| 16 | c.G1964A* | p.R655H | De novo | Pathogenic | Missense | (17) | |
| 15th | 6 | c.790dupG* | p.A264Gfs*47 | Father | Pathogenic | Frameshift | Novel |
| 8 | c.C1077G* | p.N359K | Mother | Pathogenic | Missense | (21) | |
| 16th | 1 | c.C179T* | p.T60M | Father | Likely pathogenic | Missense | (13) |
| 2 | c.426_429del* | p.M143Ffs*10 | Mother | Likely pathogenic | Frameshift | Novel | |
| 17th | 5 | c.602-16G>A* | Father | Pathogenic | Splicing | (15) | |
| 24 | c.2875_2876del* | p.R959Sfs*11 | Mother | Pathogenic | Frameshift | (22) | |
| 18th | 24 | c.2875_2876del* | p.R959Sfs*11 | Likely pathogenic | Frameshift | (22) | |
| 19th | 12 | c.G1456A* | p.D486N | Father | Pathogenic | Missense | (17) |
| 21 | c.2548+253C>T* | Mother | Likely pathogenic | Splicing | (23) | ||
| 20th | 1 | c.C179T* | p.T60M | Father | Likely pathogenic | Missense | (13) |
| 16 | c.C1946T* | p.T649M | Mother | Likely pathogenic | Missense | (24) | |
| 18 | c.C2243T* | p.S748L | Mother | Likely pathogenic | Missense | (25) | |
| 21th | 1 | c.C179T* | p.T60M | Father | Pathogenic | Missense | (13) |
| 10 | c.G1289A* | p.P430Y | Mother | Pathogenic | Missense | (1) | |
| 22th | 1 | c.C179T* | p.T60M | Mother | Likely pathogenic | Missense | (13) |
| 1 | c.G248A* | p.R83Q | Father | Uncertain | Missense | (1) | |
| 23th | 8 | c.T971A* | p.I324N | Pathogenic | Missense | Novel | |
| 8 | c.976delG* | p.V326Sfs*44 | Pathogenic | Frameshift | (26) | ||
| 24th | 2 | c.G429A* | p.M143I | Father | Uncertain | Missense | Novel |
| 14 | c.T1672C* | p.W558R | Mother | Uncertain | Missense | Novel | |
| 25th | 1 | c.C179T* | p.T60M | Father | Likely pathogenic | Missense | (13) |
| 14 | c.1736_1738delTCA* | p.579_580del | Mother | Uncertain | Deletion | Novel | |
| 26th | 8 | c.965-1_976delGCGG ACATTTTTGinsACCGA AAATTTT* |
Father | Pathogenic | Splicing | (20) | |
| 27th | 4 | c.546_547insTCCA* | p.T185Hfs*74 | Father | Pathogenic | Frameshift | Novel |
| 8 | c.965-1_976delGCGG ACATTTTTGinsACCGA AAATTTT* |
Mother | Pathogenic | Splicing | (20) | ||
| 24 | c.C2782T* | p.R928C | Father | Uncertain | Missense | (1) | |
| 28th | IVS 21 | c.2548 + 253 C >T** | De novo | Likely pathogenic | Splicing | (23) | |
| 25 | c.C2929T * | p.R977X | Father | Pathogenic | Non-sense | (17) | |
| 29th | 1 | c.C179T* | p.T60M | Mother | Likely pathogenic | Missense | (13) |
| 3 | c.486-490delTACGGinA* | p.T163Rfs*7 | Father | Likely pathogenic | Frameshift | Novel | |
| 30th | 1 | c.C179T* | p.T60M | Mother | Likely pathogenic | Missense | (13) |
| 8 | c.G1084A* | p.G362S | Father | Likely pathogenic | Missense | Novel | |
| 31th | 17 | c.G2159T* | p.G720V | Father | Uncertain | Missense | Novel |
| 12 | c.G1456A* | p.D486N | Mother | Pathogenic | Missense | (20) |
*
Heterogeneous.
**
Homozygous.
GS, Gitelman syndrome; WES, whole-exome sequencing.