Submissions for variant NM_000257.4(MYH7):c.1395C>T (p.Phe465=)

gnomAD frequency: 0.00082  dbSNP: rs45508293

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel	RCV000758074	SCV000564495	benign	Cardiomyopathy	2016-12-15	reviewed by expert panel	curation	The filtering allele frequency of the c.1395C>T (p.Phe465=) variant in the MYH7 gene is 0.18% (27/10402) 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	RCV000035723	SCV000059374	likely benign	not specified	2014-10-22	criteria provided, single submitter	clinical testing	p.Phe465Phe in exon 14 of MYH7: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (9/4406) of A frican American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS/; dbSNP rs45508293).
Invitae	RCV000232979	SCV000284256	benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621524	SCV000737191	likely benign	Cardiovascular phenotype	2016-11-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000758074	SCV001359747	benign	Cardiomyopathy	2018-12-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001689585	SCV001913597	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002482964	SCV002794548	likely benign	Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy	2021-09-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000758074	SCV004239435	benign	Cardiomyopathy	2023-03-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035723	SCV001917604	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001689585	SCV001927762	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001689585	SCV001967715	likely benign	not provided		no assertion criteria provided	clinical testing