ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1990G>A (p.Val664Met)

gnomAD frequency: 0.00001  dbSNP: rs782695128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820625 SCV000961344 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 664 of the JUP protein (p.Val664Met). This variant is present in population databases (rs782695128, gnomAD 0.004%). 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: 662884). 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 RCV002415928 SCV002718458 uncertain significance Cardiovascular phenotype 2024-02-26 criteria provided, single submitter clinical testing The p.V664M variant (also known as c.1990G>A), located in coding exon 11 of the JUP gene, results from a G to A substitution at nucleotide position 1990. The valine at codon 664 is replaced by methionine, an amino acid with highly 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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