ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.697C>T (p.Arg233Cys)

gnomAD frequency: 0.00001  dbSNP: rs529126058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217295 SCV001389129 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-06-17 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 946430). This missense change has been observed in individual(s) with left ventricular noncompaction (PMID: 28798025). 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 sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 233 of the JUP protein (p.Arg233Cys).

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