Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412375 | SCV000487583 | likely pathogenic | Usher syndrome type 1C | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409966 | SCV000487584 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001865277 | SCV002239112 | pathogenic | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg155*) in the USH1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). This variant is present in population databases (rs377145777, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 17407589, 25356976, 27460420). ClinVar contains an entry for this variant (Variation ID: 371731). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000409966 | SCV004207644 | pathogenic | Autosomal recessive nonsyndromic hearing loss 18A | 2023-09-06 | criteria provided, single submitter | clinical testing | |
University of Washington Center for Mendelian Genomics, |
RCV001291494 | SCV001479998 | likely pathogenic | Hearing loss, autosomal recessive | no assertion criteria provided | research |