Submissions for variant NM_017433.5(MYO3A):c.1242A>T (p.Gly414=)

gnomAD frequency: 0.00083  dbSNP: rs3758442

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155207	SCV000204893	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	p.Gly414Gly in Exon 13 of MYO3A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1.9% (163/8644) o f East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs3758442).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880457	SCV001023554	benign	not provided	2023-12-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103890	SCV001260703	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.
GeneDx	RCV000880457	SCV001836434	benign	not provided	2019-11-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001103890	SCV003800508	benign	Autosomal recessive nonsyndromic hearing loss 30	2022-02-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937456	SCV004764271	benign	MYO3A-related disorder	2019-10-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).