Submissions for variant NM_002471.4(MYH6):c.1410C>T (p.Asp470=)

gnomAD frequency: 0.00011  dbSNP: rs139886074

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154764	SCV000204444	likely benign	not specified	2014-04-04	criteria provided, single submitter	clinical testing	Asp470Asp in exon 13 of MYH6: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue. Although this variant is located in the 5' splice region, the nucleotide is not conserved and computa tional tools do not suggest an impact to splicing. Additionally, it has been id entified in 2/8600 European American chromosomes by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS/; dbSNP rs139886074).
Ambry Genetics	RCV000247793	SCV000318343	likely benign	Cardiovascular phenotype	2019-03-28	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.
GeneDx	RCV000786372	SCV000718017	likely benign	not provided	2020-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087003	SCV000826404	likely benign	Hypertrophic cardiomyopathy 14	2023-12-18	criteria provided, single submitter	clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000786372	SCV000925180	uncertain significance	not provided	2015-12-16	no assertion criteria provided	provider interpretation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000786372	SCV001739529	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154764	SCV001920260	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000786372	SCV001926269	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000786372	SCV001957557	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534962	SCV004727013	likely benign	MYH6-related disorder	2020-11-10	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).