ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.442A>C (p.Ser148Arg) (rs730880836)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158734 SCV000208669 likely pathogenic not provided 2013-10-08 criteria provided, single submitter clinical testing p.Ser148Arg (AGC>CGC): c.442 A>C in exon 5 of the MYH7 gene (NM_000257.2). The Ser148Arg variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ser148Arg was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Ser148Arg results in a semi-conservative amino acid substitution of a polar, neutral Serine with a polar, negatively charged Arginine at a position that is class conserved across species. In silico analysis predicts Ser148Arg is damaging to the protein structure/function. Mutations in the same residue (Ser148Ile) and in nearby residues (Lys146Asn, Tyr162Cys, Tyr162His) have been reported in association with cardiomyopathy, further supporting the functional importance of this region of the protein. In summary, Ser148Arg is a good candidate for a disease-causing mutation. The variant is found in DCM-CRDM panel(s).

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