ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.643C>T (p.His215Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002361774 SCV002660362 uncertain significance Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing The p.H215Y variant (also known as c.643C>T), located in coding exon 3 of the JUP gene, results from a C to T substitution at nucleotide position 643. The histidine at codon 215 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is well 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 alteration remains unclear.
Invitae RCV003776258 SCV004572084 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 215 of the JUP protein (p.His215Tyr). This variant is present in population databases (rs141124805, gnomAD 0.008%). 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: 1753531). 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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