Table 6.
Patients with definitive diagnoses from upgraded classification of priority VUSs
| 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 |
Segregation analysis confirms that the second variant occurs on the opposite allele in three probands, Table cells with NA are not available