ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.211G>T (p.Asp71Tyr)

gnomAD frequency: 0.00001  dbSNP: rs781869872
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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 RCV001964666 SCV002203619 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-08-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 71 of the JUP protein (p.Asp71Tyr). 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: 1427673). 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 RCV002423075 SCV002727088 uncertain significance Cardiovascular phenotype 2020-10-20 criteria provided, single submitter clinical testing The p.D71Y variant (also known as c.211G>T), located in coding exon 2 of the JUP gene, results from a G to T substitution at nucleotide position 211. The aspartic acid at codon 71 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001964666 SCV002797694 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-30 criteria provided, single submitter clinical testing

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