Submissions for variant NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val)

gnomAD frequency: 0.00218  dbSNP: rs72787346

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039026	SCV000062704	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ala520Val in Exon 15 of MYO3A: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (27/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs72787346).
Eurofins Ntd Llc (ga)	RCV000039026	SCV000226336	likely benign	not specified	2015-03-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000381484	SCV000361925	uncertain significance	Autosomal recessive nonsyndromic hearing loss 30	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000957891	SCV001104712	likely benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000957891	SCV001818800	likely benign	not provided	2020-09-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000957891	SCV002562996	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYO3A: BS2
PreventionGenetics, part of Exact Sciences	RCV003924938	SCV004739278	likely benign	MYO3A-related disorder	2022-09-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).