ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)

dbSNP: rs727504308
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001723721 SCV001985351 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22464770)
Invitae RCV001857531 SCV002224459 uncertain significance Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-10-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 177748). 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. 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: "Benign"; Align-GVGD: "Class C65"). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 22464770). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 128 of the ACTC1 protein (p.Thr128Ile).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154361 SCV000204024 uncertain significance not specified 2013-01-23 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723721 SCV001958067 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723721 SCV001969231 pathogenic not provided no assertion criteria provided clinical testing

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