ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1711G>T (p.Ala571Ser)

dbSNP: rs397517297
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Total submissions: 2
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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 RCV000039068 SCV000062746 uncertain significance not specified 2012-03-01 criteria provided, single submitter clinical testing The Ala571Ser variant (JUP) has not been previously reported in the literature o r been previously identified by our laboratory. Computational analyses (biochem ical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) sugges t that this variant may not impact the normal function of the protein, though th is information is not predictive enough to rule out pathogenicity. Additional s tudies are needed to fully assess the clinical significance of the Ala571Ser var iant.
Invitae RCV001241393 SCV001414407 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 571 of the JUP protein (p.Ala571Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 45839). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.

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