Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001582472 | SCV001819475 | pathogenic | not provided | 2020-06-25 | criteria provided, single submitter | clinical testing | Observed in heterozygous state in five patients with mild hearing loss, including four cases with onset between 29-35 years of age and family histories consistent with autosomal dominant inheritance, and one sporadic case with unknown age of onset and inheritance pattern (Miyagawa et al., 2015; Oka et al., 2020); R1166X segregated in two other heterozygous affected relatives in one of these families; Published functional studies demonstrate a damging effect resulting in a truncated protein with aberrant binding and localization (Arden et al., 2016); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 25999546, 32143290, 12687499, 18348273, 27474411, 25525159, 18212818) |
OMIM | RCV000009110 | SCV000029327 | pathogenic | Autosomal recessive nonsyndromic hearing loss 37 | 2003-05-01 | no assertion criteria provided | literature only |