Table 1.
Summary of clinical and genomic data for SLC12A2 variant carriers
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | Case 9 | |
|---|---|---|---|---|---|---|---|---|---|
| Age, years; sex | 1; Male | 9; Male | 15; Female | 3; F | 6; F | 21; Male | 2; Male | 44; Male | 5; Male |
| Variant (Genome build GRCh-37/hg19) | g.5127450305C>T | g.5127469897G>A | g.5127503511G>A | g.5127466837A>T | g.5127420201dup | g.5127466845delinsCT | g.5127512805G>A | g.5127512802G>A | g.5127512802G>A |
| c.DNA variantNM_001046.3 | c.980C>T | c.1229G>A | c.2675G>A | c.1127A>T | c.555dupG | c.1135_1136delGCinsCT | c.2938G>A | c.2935G>A | c.2935G>A |
| ACMG criteria | 4 | 4 | 5 | 4 | 4 | 4 | 4 | 4 | 4 |
| Inheritance | De novo | De novo | De novo | De novo | De novo | De novo | De novo | Unknown | Inherited from Case 8 |
| Amino acid change | p.(Ala327Val) | p.(Arg410Gln) | p.(Trp892*) | p.(Asn376Ile) | p.(His186AlafsTer17) | p.(Ala379Leu) | p.(Glu980Lys) | p.(Glu979Lys) | p.(Glu979Lys) |
| Exon (of 27) | 4 | 6 | 18 | 5 | 1 | 5 | 21 | 21 | 21 |
| gnomAD frequency | 0 | 0.0000070 (2 cases) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| CADD-Phred score | 26.0 | 31 | 40 | 27.3 | 33 | 28 | 23 | 23 | 23 |
| GERP | 5.36 | 4.94 | 4.8 | 4.92 | 3.97 | 4.92 | 5.11 | 5.11 | 5.11 |
| MutationTaster | Disease causing (1) | Disease causing (1) | Disease causing (1) | Disease causing (1) | N/A | Disease causing (1) | Disease causing (1) | Disease causing (1) | Disease causing (1) |
| FATHMM | Damaging (−5.14) | Damaging (−2.17) | Damaging (0.977) (FATHMM-MKL) | Damaging (−5.18) | N/A | Damaging (−5.03) | Damaging (−1.91) | Damaging (−1.9) | Damaging (−1.9) |
| PolyPhen-2 | Probably damaging (1) | Probably damaging (1) | N/A | Probably damaging (1) | N/A | Probably damaging (1) | Possibly damaging (0.682) | Possibly damaging (0.799) | Possibly damaging (0.799) |