Table 5.
Patients with definitive diagnoses from upgraded classification of priority VUSs. Segregation analysis confirms that the second variant occurs on the opposite allele in three probands. Table cells with NA are not available.
| Patient ID | Gene | Inheritance | Priority VUS | Second Variant (Classification) | Segregation Analysis |
|---|---|---|---|---|---|
| 1 | CDH23 | AR | NP_071407.4:p.Tyr2883Ser | Arg2795Ter (P) | NA |
| 2 | GRXCR1 | AR | NP_001073945.1:p.Tyr142Cys | Gln283Ter (P) | Yes |
| 3 | HARS2 | AR | NP_036340.1:p.Tyr364Cys | Arg150Cys (LP) | Yes |
| 4 | MYO6 | AD | NP_001355794.1:p.Cys1236Arg | None | NA |
| 5 | PDZD7 | AR | NP_001182192.1:p.Ile269Ser | Arg56ProfsTer24 (P) | NA |
| 6 | TMPRSS3 | AR | NP_076927.1:p.Met384Lys | His70ThrfsTer19 (P) | Yes |