ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.2T>C (p.Met1Thr)

dbSNP: rs781220417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241829 SCV001414878 uncertain significance Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2019-10-07 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ACTC1 mRNA. The next in-frame methionine is located at codon 46. This variant is present in population databases (rs781220417, ExAC 0.002%). This variant has not been reported in the literature in individuals with ACTC1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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