ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1460G>T (p.Cys487Phe) (rs727504619)

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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 RCV000155877 SCV000205588 uncertain significance not specified 2013-07-05 criteria provided, single submitter clinical testing The Cys487Phe variant in ACTN2 has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that th is variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. Additional information is needed to fully assess the clinical significance of this variant.

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