ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3979-7T>C

dbSNP: rs535111647
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083898 SCV000287416 benign Hypertrophic cardiomyopathy 14 2024-01-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587425 SCV000697925 benign not provided 2016-06-20 criteria provided, single submitter clinical testing Variant summary: The MYH6 c.3979-7T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing and ESEfinder predicts changes of binding motifs for RNA splicing enhancers. This variant was found in 267/76776 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0154313 (122/7906). This frequency is about 617 times the estimated maximal expected allele frequency of a pathogenic MYH6 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications or clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
GeneDx RCV000603968 SCV000730709 benign not specified 2017-02-08 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769403 SCV000900795 benign Cardiomyopathy 2018-12-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000587425 SCV001741406 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000603968 SCV001951676 benign not specified no assertion criteria provided clinical testing

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