ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1849G>A (p.Ala617Thr)

dbSNP: rs397517299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039071 SCV000062749 uncertain significance not specified 2013-01-30 criteria provided, single submitter clinical testing The Ala617Thr variant in JUP has not been previously reported in the literature or identified by our laboratory. The frequency of this variant in large European American and African American populations cannot be determined from the NHLBI E xome Sequencing Project (http://evs.gs.washington.edu/EVS/), because coverage at this position was insufficient or unavailable. Computational analyses (biochemi cal amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the variant may not impact the protein, though this information is not pre dictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the Ala617Thr variant.
Fulgent Genetics, Fulgent Genetics RCV002490532 SCV002785247 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-03 criteria provided, single submitter clinical testing
Invitae RCV002490532 SCV003018183 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-06-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 617 of the JUP protein (p.Ala617Thr). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 45841).

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