Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150536 | SCV000197750 | uncertain significance | not specified | 2015-01-29 | criteria provided, single submitter | clinical testing | The p.Ile269Thr variant in DSG2 has been reported in 1 individual with ARVC (Fre ssart 2010) and has been identified in 6/11544 of Latino chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computational p rediction tools and conservation analysis do not provide strong support for or a gainst an impact to the protein. In summary, the clinical significance of the p. Ile269Thr variant is uncertain. |
Invitae | RCV001045466 | SCV001209319 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2022-09-22 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 269 of the DSG2 protein (p.Ile269Thr). This variant is present in population databases (rs727502986, gnomAD 0.04%). This missense change has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 20400443). ClinVar contains an entry for this variant (Variation ID: 163204). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DSG2 protein function. 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. |
Color Diagnostics, |
RCV001181124 | SCV001346210 | likely benign | Cardiomyopathy | 2023-03-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001563010 | SCV001785876 | uncertain significance | not provided | 2021-02-02 | criteria provided, single submitter | clinical testing | Identified in a patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) (Fressart et al., 2010); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 163204; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20400443) |
Fulgent Genetics, |
RCV002478420 | SCV002794298 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB | 2021-08-03 | criteria provided, single submitter | clinical testing |