ClinVar Miner

Submissions for variant NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu)

dbSNP: rs1567812900
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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 RCV000698726 SCV000827407 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2020-09-09 criteria provided, single submitter clinical testing 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. This variant, c.910_912dupCTG, results in the insertion of 1 amino acid to the JUP protein (p.Leu304dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with JUP-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown.

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