Submissions for variant NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)

gnomAD frequency: 0.00063  dbSNP: rs138294643

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel	RCV000758070	SCV000564485	benign	Cardiomyopathy	2016-12-15	reviewed by expert panel	curation	The filtering allele frequency of the c.3156G>A (p.Lys1052=) variant in the MYH7 gene is 0.14% (21/10404) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035842	SCV000059493	likely benign	not specified	2015-03-21	criteria provided, single submitter	clinical testing	p.Lys1052Lys in exon 25 of MYH7: 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 0.2% (21/10404) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs138294643).
Illumina Laboratory Services, Illumina	RCV000374258	SCV000386064	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282026	SCV000386065	likely benign	MYH7-related skeletal myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334767	SCV000386066	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000372940	SCV000386067	likely benign	Scapuloperoneal myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000285395	SCV000386068	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV003320063	SCV000386069	likely benign	Myosin storage myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000285395	SCV000623689	benign	Hypertrophic cardiomyopathy	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619565	SCV000739956	likely benign	Cardiovascular phenotype	2016-06-21	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000758070	SCV000901923	likely benign	Cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000758070	SCV001358498	benign	Cardiomyopathy	2018-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001711098	SCV001940823	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541076	SCV004777510	likely benign	MYH7-related disorder	2020-02-26	criteria provided, single submitter	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).
All of Us Research Program, National Institutes of Health	RCV000758070	SCV004815026	benign	Cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035842	SCV001925352	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001711098	SCV001957909	likely benign	not provided		no assertion criteria provided	clinical testing