Submissions for variant NM_000260.4(MYO7A):c.6626G>A (p.Arg2209Gln)

gnomAD frequency: 0.00002  dbSNP: rs776881443

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001230499	SCV001402980	uncertain significance	not provided	2022-04-20	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2209 of the MYO7A protein (p.Arg2209Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 957508). 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 not expected to disrupt MYO7A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)	RCV001526688	SCV001451445	uncertain significance	Meniere disease	2020-12-14	criteria provided, single submitter	case-control
Natera, Inc.	RCV001836184	SCV002088552	uncertain significance	Usher syndrome type 1B	2020-02-10	no assertion criteria provided	clinical testing