ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1129C>A (p.Arg377Ser)

gnomAD frequency: 0.00001  dbSNP: rs368564000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458231 SCV000550395 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-02-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 377 of the JUP protein (p.Arg377Ser). This variant is present in population databases (rs368564000, gnomAD 0.004%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 409983). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002323730 SCV002608240 uncertain significance Cardiovascular phenotype 2019-06-27 criteria provided, single submitter clinical testing The p.R377S variant (also known as c.1129C>A), located in coding exon 6 of the JUP gene, results from a C to A substitution at nucleotide position 1129. The arginine at codon 377 is replaced by serine, an amino acid with dissimilar properties. This alteration has been reported in a dilated cardiomyopathy clinical genetic testing cohort; however, clinical details were limited (Walsh R et al. Genet. Med., 2017 02;19:192-203). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000458231 SCV002793722 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-07-22 criteria provided, single submitter clinical testing

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