ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile)

gnomAD frequency: 0.00029  dbSNP: rs201016285
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155802 SCV000205513 benign not specified 2015-04-02 criteria provided, single submitter clinical testing p.Met1431Ile in exon 30 of MYH6: This variant is not expected to have clinical s ignificance because it has been identified in 1.8% (210/11576) of Latino chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs201016285).
Ambry Genetics RCV000244312 SCV000319078 benign Cardiovascular phenotype 2018-09-06 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000155802 SCV000515729 benign not specified 2017-01-12 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 RCV000756392 SCV000557918 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003654212 SCV000884191 benign not provided 2023-04-24 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852693 SCV000995403 benign Cardiomyopathy 2019-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544443 SCV004789241 likely benign MYH6-related disorder 2019-03-12 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).

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