Table 5.
Nominated diagnostic variants predicted with the highest probability for correct genome-patient matches
| Genome (patient) | Phenotype category | SID# | Genomic position (hg19) | Gene | Transcript | Nucleotide change | Protein change | Plausible gene for category? | Gene Phenotype Correlation | Classification |
|---|---|---|---|---|---|---|---|---|---|---|
| 7(X) | Ophthalmologic | 7 | 4:16024957:A:G | PROM1 | NM_001145849.1 | c.776T>C | p.Met259Arg | Yes | Poor | VUS |
| 67(M) | Ophthalmologic | 1 | 11:89017973:C:T | TYR | NM_000372.4 | c.1217C>T | p.Pro406Leu | Yes | Poor | Likely pathogenic |
| 68(J) | Neurological | 3 | 1:156105054:G:T | LMNA | NM_170707.3 | c.887G>T | p.Arg296Leu | Yes | Partial | VUS |
| 78(V) | Connective | 6.2 | 8:11615803:C:T | GATA4 | NM_002052.4 | c.1148C>T | p.Thr383Met | No | None | VUS |
| 93(F) | Connective | 4 | 22:41574743:A:G | EP300 | NM_001429.3 | c.7028A>G | p.Gln2343Arg | No | Poor | VUS |
| 99(B) | Neurological | 4 | 20:44044789:C:T | PIGT | NM_015937.5 | c.−8C>T | 5’UTR | Yes | Poor | VUS |