Submissions for variant NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)

gnomAD frequency: 0.00031  dbSNP: rs150450178

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217428	SCV000270453	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ala1704Ala in exon 34 of MYH6: 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 24/66606 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs150450178).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081780	SCV000557868	likely benign	Hypertrophic cardiomyopathy 14	2024-12-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000463413	SCV000729169	likely benign	not provided	2021-03-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618953	SCV000735598	likely benign	Cardiovascular phenotype	2016-11-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000217428	SCV001519619	benign	not specified	2021-03-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000463413	SCV005211356	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000463413	SCV001743984	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000217428	SCV001918206	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000463413	SCV001932555	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000463413	SCV001954429	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000463413	SCV001967532	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541322	SCV004758036	likely benign	MYH6-related disorder	2020-08-13	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).