ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.329C>T (p.Ala110Val)

gnomAD frequency: 0.00004  dbSNP: rs782770278
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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 RCV000248046 SCV000320267 uncertain significance Cardiovascular phenotype 2015-10-06 criteria provided, single submitter clinical testing The p.A110V variant (also known as c.329C>T), located in coding exon 2 of the JUP gene, results from a C to T substitution at nucleotide position 329. The alanine at codon 110 is replaced by valine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6500 samples (13000 alleles) with coverage at this position. This amino acid position is poorly conserved in available 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 variant remains unclear.
Invitae RCV000701099 SCV000829882 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-05-24 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. 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. ClinVar contains an entry for this variant (Variation ID: 264370). 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 alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 110 of the JUP protein (p.Ala110Val).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150147 SCV003838892 uncertain significance Cardiomyopathy 2021-09-23 criteria provided, single submitter clinical testing

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