Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000457167 | SCV000550392 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 320 of the JUP protein (p.Arg320His). This variant is present in population databases (rs781965392, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 409982). 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 tolerated. 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. |
| Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256954 | SCV001433487 | uncertain significance | Left ventricular noncompaction 1 | 2019-10-15 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001764429 | SCV001991497 | uncertain significance | not provided | 2023-05-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with a history of cardiac arrest who harbored additional cardiogenetic variants (Tiesmeier et al., 2021); This variant is associated with the following publications: (PMID: 34389451) |
| Ambry Genetics | RCV002379466 | SCV002694936 | likely benign | Cardiovascular phenotype | 2023-05-08 | 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. |
| Fulgent Genetics, |
RCV000457167 | SCV002814050 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-07-08 | criteria provided, single submitter | clinical testing |