ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.572G>A (p.Arg191His)

gnomAD frequency: 0.00002  dbSNP: rs143502391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618804 SCV000735243 uncertain significance Cardiovascular phenotype 2019-06-13 criteria provided, single submitter clinical testing The p.R191H variant (also known as c.572G>A), located in coding exon 3 of the JUP gene, results from a G to A substitution at nucleotide position 572. The arginine at codon 191 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction by BayesDel for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001364805 SCV001560985 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 191 of the JUP protein (p.Arg191His). This variant is present in population databases (rs143502391, gnomAD 0.007%). 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: 518496). 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.
Fulgent Genetics, Fulgent Genetics RCV001364805 SCV002816329 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-22 criteria provided, single submitter clinical testing

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