Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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, |
RCV001723721 | SCV001958067 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723721 | SCV001969231 | pathogenic | not provided | no assertion criteria provided | clinical testing |