ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1333G>C (p.Ala445Pro)

gnomAD frequency: 0.00001  dbSNP: rs782465430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243320 SCV000320558 uncertain significance Cardiovascular phenotype 2023-02-23 criteria provided, single submitter clinical testing The p.A445P variant (also known as c.1333G>C), located in coding exon 7 of the JUP gene, results from a G to C substitution at nucleotide position 1333. The alanine at codon 445 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506902 SCV000604054 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV001230046 SCV001402513 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 445 of the JUP protein (p.Ala445Pro). This variant is present in population databases (rs782465430, gnomAD 0.002%). 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: 264551). 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 disruptive. 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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