ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) (rs193922681)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029294 SCV000051940 likely pathogenic Primary familial hypertrophic cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV001342095 SCV001536004 uncertain significance Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2020-07-15 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 23 of the ACTC1 protein (p.Phe23Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 25524337). ClinVar contains an entry for this variant (Variation ID: 35647). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). 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. 5
GeneDx RCV001568007 SCV001791796 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar (ClinVar Variant ID# 35647; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25524337)

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