Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001215429 | SCV001387174 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2023-03-26 | criteria provided, single submitter | clinical testing | This sequence change affects codon 95 of the JUP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the JUP protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 944919). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
| Ambry Genetics | RCV002436825 | SCV002748213 | uncertain significance | Cardiovascular phenotype | 2022-08-25 | criteria provided, single submitter | clinical testing | The c.285C>T variant (also known as p.G95G), located in coding exon 2 of the JUP gene, results from a C to T substitution at nucleotide position 285. This nucleotide substitution does not change the glycine at codon 95. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |