ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.511AAG[1] (p.Lys172del)

dbSNP: rs2143684447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224471 SCV002503190 uncertain significance not provided 2021-12-27 criteria provided, single submitter clinical testing
GeneDx RCV002224471 SCV003927760 uncertain significance not provided 2022-11-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003774656 SCV004581429 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-11-09 criteria provided, single submitter clinical testing This variant, c.514_516del, results in the deletion of 1 amino acid(s) of the JUP protein (p.Lys172del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1677729). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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