ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.329C>T (p.Ala110Val) (rs782770278)

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Total submissions: 2
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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
Invitae RCV000701099 SCV000829882 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-08-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 110 of the JUP protein (p.Ala110Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with JUP-related disease. ClinVar contains an entry for this variant (Variation ID: 264370). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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