Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171963 | SCV000054837 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Blueprint Genetics | RCV000208296 | SCV000263961 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2015-07-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000244325 | SCV000320615 | likely benign | Cardiovascular phenotype | 2022-02-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV000466475 | SCV000550393 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2025-01-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 176 of the JUP protein (p.Arg176Trp). This variant is present in population databases (rs368336007, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of JUP-related conditions (PMID: 27662471, 38254962). ClinVar contains an entry for this variant (Variation ID: 191675). 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. |
Center of Genomic medicine, |
RCV000499623 | SCV000598142 | uncertain significance | Primary dilated cardiomyopathy | 2016-10-26 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198755 | SCV001369750 | uncertain significance | Naxos disease | 2020-02-25 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. |
Gene |
RCV000171963 | SCV002567707 | uncertain significance | not provided | 2022-05-21 | criteria provided, single submitter | clinical testing | Reported in an individual with sudden unexplained death who also harbored a pathogenic variant in the KCNH2 gene (Sanchez 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: 23861362, 27662471, 28831623, 27930701, 21859740) |
Fulgent Genetics, |
RCV000466475 | SCV002788379 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-10-28 | criteria provided, single submitter | clinical testing |