ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1354A>T (p.Thr452Ser)

gnomAD frequency: 0.00002  dbSNP: rs794729045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183499 SCV000235959 uncertain significance not provided 2024-03-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV000765352 SCV000896617 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000765352 SCV001536486 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 452 of the JUP protein (p.Thr452Ser). This variant is present in population databases (rs794729045, gnomAD 0.003%). 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: 201823). 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 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 RCV003165403 SCV003911928 uncertain significance Cardiovascular phenotype 2023-01-07 criteria provided, single submitter clinical testing The p.T452S variant (also known as c.1354A>T), located in coding exon 7 of the JUP gene, results from an A to T substitution at nucleotide position 1354. The threonine at codon 452 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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