ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2843A>G (p.Glu948Gly)

dbSNP: rs2138598876
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002246185 SCV002515883 likely benign Hypertrophic cardiomyopathy 14 2022-05-20 criteria provided, single submitter clinical testing For the following reasons, the MYH6 sequence variant found is assessed by us as a "Liekely benign": the mutation has not been previously described in the specialized literature or listed in the HGMD and ClinVar databases; a comparison with the gnomAD browser did not provide evidence that this sequence change is a norm variant detectable also in non-affected individuals; the molecular diagnosis matches partial aspects of the patient's clinical symptoms; the mutation is independently classified as deleterious by four prediction programs. Based on the finding that the unaffected mother of index patient is a carrier and assuming complete penetrance, the sequence variants in MYH6- most likely represent rare familial variants.

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