Submissions for variant NM_002471.4(MYH6):c.4470C>T (p.Tyr1490=)

gnomAD frequency: 0.00002  dbSNP: rs727504964

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156375	SCV000206093	likely benign	not specified	2014-03-21	criteria provided, single submitter	clinical testing	Tyr1490Tyr in exon 31 of MYH6: This variant has not been reported in individuals with cardiomyopathy or in large population studies. It is not expected to have clinical significance because it does not alter an amino acid residue and is no t located within the splice consensus sequence. Tyr1490Tyr in exon 31 of MYH6 ( allele frequency = n/a)
Ambry Genetics	RCV002326888	SCV002636677	likely benign	Cardiovascular phenotype	2022-10-14	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.
Invitae	RCV002515015	SCV003273174	likely benign	Hypertrophic cardiomyopathy 14	2023-07-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895062	SCV004714640	likely benign	MYH6-related condition	2020-09-03	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).