ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1122G>A (p.Ala374=)

gnomAD frequency: 0.00116  dbSNP: rs148091079
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Total submissions: 13
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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 RCV000154767 SCV000204447 likely benign not specified 2014-12-29 criteria provided, single submitter clinical testing p.Ala374Ala in exon 12 of MYH6: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.2% (138/74414) of European (Finnish and non-Finnish) chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org; dbSNP rs148091079).
Invitae RCV000466661 SCV000557923 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001528761 SCV000715145 likely benign not provided 2021-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617361 SCV000736977 likely benign Cardiovascular phenotype 2015-06-09 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769426 SCV000900819 benign Cardiomyopathy 2017-07-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000154767 SCV001157369 benign not specified 2019-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001528761 SCV001747700 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154767 SCV001983551 benign not specified 2021-09-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528761 SCV001741075 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000154767 SCV001923134 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528761 SCV001929968 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000154767 SCV001958653 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528761 SCV001966969 likely benign not provided no assertion criteria provided clinical testing

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