ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.343G>A (p.Val115Met) (rs397516579)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806976 SCV000947000 uncertain significance Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 115 of the ACTN2 protein (p.Val115Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with dilated cardiomyopathy (PMID: 20474083). ClinVar contains an entry for this variant (Variation ID: 43936). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036909 SCV000060564 uncertain significance not specified 2014-10-16 criteria provided, single submitter clinical testing The Val115Met variant in ACTN2 has been reported in 1 individual with dilated ca rdiomyopathy (Zimmerman 2010), and was not identified in large population studie s . Computational prediction tools and conservation analysis do not provide stro ng support for or against an impact to the protein. In summary, the clinical sig nificance of the Val115Met variant is uncertain.

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