ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) (rs730880387)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460199 SCV000550879 uncertain significance Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2018-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys20Argfs*38) in the ACTC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs730880387, ExAC 0.002%). This variant has not been reported in the literature in individuals with ACTC1-related disease. ClinVar contains an entry for this variant (Variation ID: 180752). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACTC1 cause disease. 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.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678694 SCV000804856 uncertain significance not specified 2015-07-29 no assertion criteria provided clinical testing

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