Submissions for variant NM_000257.4(MYH7):c.930T>C (p.Tyr310=)

gnomAD frequency: 0.00091  dbSNP: rs111626355

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel	RCV000758031	SCV000564501	benign	Cardiomyopathy	2016-12-15	reviewed by expert panel	curation	The filtering allele frequency of the c.930T>C (p.Tyr310=) variant in the MYH7 gene is 0.23% (33/10334) 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	RCV000154503	SCV000204174	benign	not specified	2009-03-24	criteria provided, single submitter	clinical testing	Tyr310Tyr in Exon 11 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.3% (13/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs111626355).
Invitae	RCV001083391	SCV000623760	benign	Hypertrophic cardiomyopathy	2024-01-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619517	SCV000737370	likely benign	Cardiovascular phenotype	2016-05-26	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.
Athena Diagnostics	RCV000712364	SCV000842838	benign	not provided	2018-03-23	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000758031	SCV000900858	likely benign	Cardiomyopathy	2017-07-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000758031	SCV001350814	benign	Cardiomyopathy	2018-12-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000712364	SCV001934734	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544407	SCV004794456	likely benign	MYH7-related disorder	2022-07-25	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).