ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.964T>C (p.Tyr322His)

gnomAD frequency: 0.00002  dbSNP: rs557075259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001935960 SCV002194976 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with JUP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant is present in population databases (rs557075259, ExAC 0.009%). This sequence change replaces tyrosine with histidine at codon 322 of the JUP protein (p.Tyr322His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine.
Ambry Genetics RCV002386726 SCV002694199 uncertain significance Cardiovascular phenotype 2020-02-20 criteria provided, single submitter clinical testing The p.Y322H variant (also known as c.964T>C), located in coding exon 5 of the JUP gene, results from a T to C substitution at nucleotide position 964. The tyrosine at codon 322 is replaced by histidine, an amino acid with 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 alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001935960 SCV002794520 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-14 criteria provided, single submitter clinical testing

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