Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668615 | SCV000793248 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001383044 | SCV001582056 | pathogenic | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp75Glufs*65) 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 (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 26969326). ClinVar contains an entry for this variant (Variation ID: 553215). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001383044 | SCV004025778 | pathogenic | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26969326, 33089500) |
Revvity Omics, |
RCV001383044 | SCV004237041 | pathogenic | not provided | 2023-02-10 | criteria provided, single submitter | clinical testing |