ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1565C>T (p.Ala522Val) (rs1060502679)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475805 SCV000550403 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 522 of the JUP protein (p.Ala522Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with sudden unexplained death (PMID: 29247119). ClinVar contains an entry for this variant (Variation ID: 409989). 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. 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 RCV000618384 SCV000738042 uncertain significance Cardiovascular phenotype 2017-05-26 criteria provided, single submitter clinical testing Insufficient evidence

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