ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.151C>T (p.Arg51Cys)

gnomAD frequency: 0.00001  dbSNP: rs782254006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170587 SCV001333175 uncertain significance Cardiomyopathy 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV001349007 SCV001543334 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 51 of the JUP protein (p.Arg51Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs782254006, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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. 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.
Ambry Genetics RCV004032922 SCV003884141 uncertain significance Cardiovascular phenotype 2023-02-14 criteria provided, single submitter clinical testing The c.151C>T (p.R51C) alteration is located in exon 2 (coding exon 1) of the JUP gene. This alteration results from a C to T substitution at nucleotide position 151, causing the arginine (R) at amino acid position 51 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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