ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs375489362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002040836 SCV002299557 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-01-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 105 of the JUP protein (p.Gln105His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine.

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