ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1658G>C (p.Gly553Ala)

dbSNP: rs782759301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023318 SCV002306958 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-03-19 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). 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: "Tolerated"; PolyPhen-2: "Possibly 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. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 553 of the JUP protein (p.Gly553Ala).

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