ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3303G>A (p.Val1101=)

gnomAD frequency: 0.00095  dbSNP: rs143825034
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Total submissions: 6
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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 RCV000154760 SCV000204440 likely benign not specified 2015-04-18 criteria provided, single submitter clinical testing p.Val1101Val in exon 25 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (22/10406) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs143825034).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770444 SCV000901887 uncertain significance Cardiomyopathy 2016-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000828008 SCV000969683 likely benign not provided 2018-05-25 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000828008 SCV002506083 benign not provided 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321638 SCV002611256 likely benign Cardiovascular phenotype 2019-08-29 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.
CeGaT Center for Human Genetics Tuebingen RCV000828008 SCV004129070 benign not provided 2022-10-01 criteria provided, single submitter clinical testing MYH6: BS1, BS2

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