ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1275C>T (p.Ile425=)

gnomAD frequency: 0.00232  dbSNP: rs61742470
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Total submissions: 15
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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 RCV000037440 SCV000061098 benign not specified 2012-03-21 criteria provided, single submitter clinical testing Ile245Ile in exon 13 of MYH6: 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 it has been identified in 0.3% (24/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs61742470) Ile245Ile in exon 13 of MYH6 (allele frequency = 0.3%, 24/7020; rs61742470) **
Invitae RCV000233369 SCV000287393 benign Hypertrophic cardiomyopathy 14 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250712 SCV000318066 likely benign Cardiovascular phenotype 2015-06-10 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.
Eurofins Ntd Llc (ga) RCV000037440 SCV000334743 likely benign not specified 2015-09-11 criteria provided, single submitter clinical testing
GeneDx RCV001528930 SCV000515451 likely benign not provided 2020-08-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769423 SCV000900816 benign Cardiomyopathy 2017-06-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037440 SCV001360447 benign not specified 2019-09-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001528930 SCV004129078 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001528930 SCV004563091 likely benign not provided 2023-08-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534784 SCV004738704 likely benign MYH6-related disorder 2020-02-25 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528930 SCV001741522 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037440 SCV001924144 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528930 SCV001931838 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037440 SCV001952241 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528930 SCV001973227 likely benign not provided no assertion criteria provided clinical testing

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