ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1358C>T (p.Ala453Val) (rs566860712)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171862 SCV000054726 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768741 SCV000900111 uncertain significance Cardiomyopathy 2015-11-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221950 SCV000271494 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing The p.Ala453Val variant in ACTN2 has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/8614 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that the p.Ala453Val variant may impact the protein, though this information is not predictive enoug h to determine pathogenicity. In summary, the clinical significance of the p.Ala 453Val variant is uncertain.

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