ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.7G>C (p.Asp3His)

dbSNP: rs397517069
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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, Mass General Brigham Personalized Medicine RCV000038338 SCV000062009 uncertain significance not specified 2014-04-18 criteria provided, single submitter clinical testing The Asp3His variant in ACTC1 has not been previously reported in any other famil ies with cardimyopathy and was absent from large population studies. Computation al prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of th e Asp3His variant is uncertain.

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