ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1330C>T (p.Arg444Cys)

gnomAD frequency: 0.00001  dbSNP: rs781793865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214675 SCV001386369 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-02 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 944304). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs781793865, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 444 of the JUP protein (p.Arg444Cys).

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