Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669350 | SCV000794096 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-09-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861776 | SCV002238533 | pathogenic | not provided | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu960*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 553827). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 10094549). This variant is present in population databases (rs782131913, gnomAD 0.002%). |