ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1040C>T (p.Ala347Val)

dbSNP: rs1915466603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001977592 SCV002264334 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-04-28 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1473502). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 347 of the JUP protein (p.Ala347Val). 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.
Fulgent Genetics, Fulgent Genetics RCV001977592 SCV002789527 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-18 criteria provided, single submitter clinical testing

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