Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Molecular Diagnosis Center for Deafness | RCV001254926 | SCV001332618 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2020-02-27 | criteria provided, single submitter | case-control | |
| Invitae | RCV003558740 | SCV004298166 | pathogenic | not provided | 2023-11-14 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2792 of the MYO15A protein (p.Val2792Ala). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with deafness (PMID: 24206587, 36401330). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 915471). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYO15A protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |