ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1652C>T (p.Thr551Met)

gnomAD frequency: 0.00001  dbSNP: rs1038719021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001352044 SCV001546567 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 551 of the JUP protein (p.Thr551Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1047344). 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.
GeneDx RCV001762608 SCV001989491 uncertain significance not provided 2024-06-25 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 indicates that this missense variant does not alter protein structure/function
Ambry Genetics RCV002404835 SCV002704682 uncertain significance Cardiovascular phenotype 2024-02-25 criteria provided, single submitter clinical testing The p.T551M variant (also known as c.1652C>T), located in coding exon 8 of the JUP gene, results from a C to T substitution at nucleotide position 1652. The threonine at codon 551 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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