Submissions for variant NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)

dbSNP: rs121965084

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001723559	SCV003439852	pathogenic	not provided	2022-04-25	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. 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 MYO7A protein function. ClinVar contains an entry for this variant (Variation ID: 11863). This missense change has been observed in individual(s) with autosomal dominant deafness (PMID: 15221449). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 458 of the MYO7A protein (p.Asn458Ile).
OMIM	RCV000012638	SCV000032873	pathogenic	Autosomal dominant nonsyndromic hearing loss 11	2004-07-01	no assertion criteria provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723559	SCV001952712	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723559	SCV001971634	likely pathogenic	not provided		no assertion criteria provided	clinical testing