ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1525G>T (p.Ala509Ser)

dbSNP: rs1555599847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001885952 SCV002144338 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-06-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 509 of the JUP protein (p.Ala509Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant has not been reported in the literature in individuals with JUP-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV002388745 SCV002706748 uncertain significance Cardiovascular phenotype 2019-11-19 criteria provided, single submitter clinical testing The p.A509S variant (also known as c.1525G>T), located in coding exon 8 of the JUP gene, results from a G to T substitution at nucleotide position 1525. The alanine at codon 509 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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