ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.298C>T (p.Leu100Phe)

dbSNP: rs1555605883
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549429 SCV000645737 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-03-19 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 468752). 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 leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 100 of the JUP protein (p.Leu100Phe).

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