ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2928+5G>A

gnomAD frequency: 0.00172  dbSNP: rs28730772
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Total submissions: 16
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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 RCV000037464 SCV000061122 likely benign not specified 2015-04-28 criteria provided, single submitter clinical testing c.2829+5G>A in intron 22 of MYH6: This variant is not expected to have clinical significance because it has been identified in 0.3% (190/66740) European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28730772).
Invitae RCV000230824 SCV000287401 likely benign Hypertrophic cardiomyopathy 14 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248019 SCV000318283 likely benign Cardiovascular phenotype 2018-07-19 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.
GeneDx RCV000590639 SCV000527900 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23396983, 26656175, 32277046)
Phosphorus, Inc. RCV000577962 SCV000679869 benign Atrial septal defect 3 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578015 SCV000679870 benign Dilated cardiomyopathy 1EE 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000230824 SCV000679871 benign Hypertrophic cardiomyopathy 14 2017-08-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590639 SCV000697924 benign not provided 2016-02-29 criteria provided, single submitter clinical testing Variant summary: The c.2928+5G>A variant affects a conserved intronic nucleotide. One in-silico tool predicts damaging outcome for this variant. 4/5 programs in Alamut predict that this variant does not significantly affect normal splicing. This variant is found in 214/121412 control chromosomes at a frequency of 0.0017626, which exceeds the predicted maximal expected frequency of a pathogenic allele (0.000025), suggesting this variant is benign. This variant has been reported in DCM and HCM patients, including one patient who also carries a TTN c.39069T>A/p.Tyr13023X (classified likely pathogenic in ClinVar). In addition, one clinical laboratory classified this variant as likely benign. Taken together, this variant was classified as benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770448 SCV000901891 benign Cardiomyopathy 2020-06-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000590639 SCV001157740 likely benign not provided 2023-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000590639 SCV004033283 benign not provided 2024-02-01 criteria provided, single submitter clinical testing MYH6: BP4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000590639 SCV001743333 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037464 SCV001923214 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000590639 SCV001927804 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037464 SCV001957637 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037464 SCV001969665 benign not specified no assertion criteria provided clinical testing

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