ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.951G>C (p.Gln317His)

gnomAD frequency: 0.00002  dbSNP: rs782215140
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001985136 SCV002223651 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-01-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1445599). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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 sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 317 of the JUP protein (p.Gln317His).
Ambry Genetics RCV002370591 SCV002688265 uncertain significance Cardiovascular phenotype 2022-11-07 criteria provided, single submitter clinical testing The p.Q317H variant (also known as c.951G>C), located in coding exon 5 of the JUP gene, results from a G to C substitution at nucleotide position 951. The glutamine at codon 317 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230716 SCV003928533 uncertain significance not specified 2023-04-17 criteria provided, single submitter clinical testing

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