ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.315G>T (p.Gln105His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003792832 SCV004577501 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 105 of the JUP protein (p.Gln105His).

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