ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3979-7T>C (rs535111647)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769403 SCV000900795 likely benign Cardiomyopathy 2016-02-11 criteria provided, single submitter clinical testing
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.
Integrated Genetics/Laboratory Corporation of America 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.
Invitae RCV000232831 SCV000287416 benign Familial hypertrophic cardiomyopathy 14 2018-01-05 criteria provided, single submitter clinical testing

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