Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668486 | SCV000793098 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531200 | SCV003440356 | pathogenic | not provided | 2023-12-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln531*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant is present in population databases (rs781951909, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18181211). ClinVar contains an entry for this variant (Variation ID: 553105). For these reasons, this variant has been classified as Pathogenic. |
University of Washington Center for Mendelian Genomics, |
RCV001291470 | SCV001479974 | likely pathogenic | Hearing loss, autosomal recessive | no assertion criteria provided | research |