ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.450_451delinsCA (p.Leu151Ile)

dbSNP: rs2143691917
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990745 SCV002256903 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2020-11-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 151 of the JUP protein (p.Leu151Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with JUP-related conditions. 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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