Table 1.
Demographic and genetic data of families segregating SAMD7 mutations
| Family | Ethnicity | Consanguinity | Mutationa | Location | gnomAD aggregated MAF | Mutation Tasterb |
Splice-site predictionsb |
In vitro splice assay outcome |
Missense predictions |
|||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SpliceAI | dbscSNV Ada | dbscSNV RF | MutScoreb | Varityb | REVELb | SIFTc | ||||||||
| 1 | Yemenite Jewish | unknown | c.290+1G>A | intron 5 | 0.000004 | D (1) | splice-altering (0.99) | D (1) | D (0.93) | exon 5 skipping | N/A | N/A | N/A | N/A |
| 2 | Berber/Morocccan | yes | c.919+1G>A | intron 6 | – | D (1) | splice-altering (1) | D (1) | D (0.9) | intron 6 retention, exon 6 skipping | N/A | N/A | N/A | N/A |
| 3 | Pakistani | yes | c.211+1G>A | intron 4 | – | D (1) | splice-altering (0.76) | D (1) | D (0.88) | exon 4 skipping | N/A | N/A | N/A | N/A |
| 4 | Pakistani | yes | ||||||||||||
| 5 | African | unknown | c.1153G>A (p.Val385Ile) |
exon 9 | – | D (1) | splice-altering (low) (0.42) | D (1) | D (0.86) | exon 9 inclusion (normal splicing), exon 9 skipping, alternative splicing of exon 9 | B (0.39) | B (0.11) | B (0.15) | B (0.11) |
| 6 | Pakistani | yes | c.992A>T (p.Asp331Val) | exon 7 | – | D (1) | B (0) | N/A | N/A | N/A | D (0.89) | D (0.89) | D (0.74) | D (0) |
B, benign; D, deleterious; MAF, minor allele frequency; N/A, not applicable.
a
Corresponding to GenBank accession number NM_001304366.2.
b
The score can range from 0 to 1, when higher values are more likely of being deleterious (D).
c
The score can range from 0 to 1, when a score below 0.001 corresponds with supporting pathogenic evidence.