ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1361A>C (p.His454Pro) (rs727505063)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156498 SCV000206217 uncertain significance not specified 2014-04-09 criteria provided, single submitter clinical testing The His454Pro variant in ACTN2 has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. Addit ional information is needed to fully assess the clinical significance of the His 454Pro variant.

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