Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000556038 | SCV000645720 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2017-07-22 | criteria provided, single submitter | clinical testing | This variant, c.116_118delGCA, results in the deletion of 1 amino acid of the JUP protein (p.Ser39del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782751782, ExAC 0.002%). This variant has not been reported in the literature in individuals with JUP-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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 | RCV002358543 | SCV002621059 | uncertain significance | Cardiovascular phenotype | 2022-06-14 | criteria provided, single submitter | clinical testing | The c.116_118delGCA variant (also known as p.S39del) is located in coding exon 1 of the JUP gene. This variant results from an in-frame GCA deletion at nucleotide positions 116 to 118. This results in the in-frame deletion of a serine at codon 39. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Clinical Genetics Laboratory, |
RCV004696941 | SCV005199250 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing |