Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208130 | SCV000263963 | uncertain significance | Primary dilated cardiomyopathy | 2015-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000468133 | SCV000550405 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 193 of the JUP protein (p.Met193Thr). This variant is present in population databases (rs139496777, gnomAD 0.01%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257, 31983221). ClinVar contains an entry for this variant (Variation ID: 222661). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Gene |
RCV001536180 | SCV001752902 | uncertain significance | not provided | 2020-05-05 | criteria provided, single submitter | clinical testing | Identified in an individual with DCM in the published literature (Walsh et al., 2017); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 222661; 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: 31983221, 27532257) |
Ambry Genetics | RCV002354587 | SCV002648944 | likely benign | Cardiovascular phenotype | 2022-03-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV000468133 | SCV002782350 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-09-12 | criteria provided, single submitter | clinical testing | |
Lupski Lab, |
RCV000656166 | SCV000678360 | uncertain significance | Wolff-Parkinson-White pattern | 2017-07-14 | no assertion criteria provided | research | This variant was identified in an individual with Wolff-Parkinson-White syndrome |