ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1213G>A (p.Val405Ile)

gnomAD frequency: 0.00001  dbSNP: rs200019016
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150849 SCV000198403 uncertain significance not specified 2013-10-15 criteria provided, single submitter clinical testing The Val405Ile variant in JUP has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 1/192 Kenyan chromosomes by the 100 0 Genomes Project (dbSNP rs200019016). Lack of evolutionary conservation suggest s that the variant may not impact the protein, though this information is not pr edictive enough to rule out pathogenicity. Additional information is needed to f ully assess the clinical significance of the Val405Ile variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000473876 SCV000550400 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 405 of the JUP protein (p.Val405Ile). This variant is present in population databases (rs200019016, gnomAD 0.03%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 32746448). ClinVar contains an entry for this variant (Variation ID: 163718). 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 RCV002354344 SCV002657160 benign Cardiovascular phenotype 2025-02-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000473876 SCV005646029 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-05-01 criteria provided, single submitter clinical testing

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