Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667646 | SCV000792130 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001237674 | SCV001410446 | pathogenic | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp1419Thrfs*7) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 26338283). This variant is also known as c.4251delC (p.I1417fs). ClinVar contains an entry for this variant (Variation ID: 552398). For these reasons, this variant has been classified as Pathogenic. |