Submissions for variant NM_000257.4(MYH7):c.261C>T (p.Ile87=)

gnomAD frequency: 0.00078  dbSNP: rs148560996

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel	RCV000758067	SCV000564506	benign	Cardiomyopathy	2016-12-15	reviewed by expert panel	curation	The filtering allele frequency of the c.261C>T (p.Ile87=) variant in the MYH7 gene is 0.18% (26/10406) 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	RCV000035808	SCV000059459	likely benign	not specified	2016-06-16	criteria provided, single submitter	clinical testing	p.Ile87Ile in exon 4 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has also been identified in 0.2% (26/10406) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs148560996).
GeneDx	RCV000035808	SCV000170545	benign	not specified	2013-01-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000460433	SCV000557968	likely benign	Hypertrophic cardiomyopathy	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619437	SCV000736978	likely benign	Cardiovascular phenotype	2023-05-26	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.
Color Diagnostics, LLC DBA Color Health	RCV000758067	SCV001343049	benign	Cardiomyopathy	2018-11-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035808	SCV001362134	likely benign	not specified	2019-12-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701725	SCV004184388	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYH7: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV000758067	SCV004814977	benign	Cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701725	SCV001931440	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701725	SCV001971406	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035808	SCV001979051	benign	not specified		no assertion criteria provided	clinical testing