ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1919G>A (p.Arg640His) (rs772909106)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183267 SCV000235693 likely pathogenic not provided 2013-12-02 criteria provided, single submitter clinical testing The Arg640His variant in the ACTN2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Arg640His variant 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. The Arg640 residue is highly conserved across species and in silico analysis predicts Arg640His is damaging to the protein structure/function. However, mutations in nearby residues have not been reported in association with cardiomyopathy, indicating this region of the protein may tolerate change. Additionally, Arg640His is a conservative amino acid substitution as these residues share similar properties, and are least likely to impact secondary structure. The variant is found in CARDIOMYOPATHY panel(s).

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