Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000669035 | SCV000793733 | pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-08-29 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001861772 | SCV002229158 | pathogenic | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with autosomal recessive Usher syndrome (PMID: 16400615, 16679490, 21436283, 25404053, 33576163). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 553558). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Phe1962Leufs*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). |
| Gene |
RCV001861772 | SCV003923754 | pathogenic | not provided | 2022-11-08 | 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); Observed with a second MYO7A variant in an individual with Usher syndrome; however segregation information was not reported (Gerber et al., 2006); This variant is associated with the following publications: (PMID: 31589614, 33576163, 16400615) |