ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.-42_-27del

dbSNP: rs1284180333
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599350 SCV000710395 uncertain significance not specified 2018-01-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the JUP gene. The c.-42_-27del16 variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.-42_-27del16 variant is located in the 5' untranslated region of the JUP gene and in silico splicing algorithms are inconsistent in their predictions as to whether this variant creates a new splice donor site or results in abnormal gene splicing. Furthermore, no regulatory variants in the JUP gene have been reported in the Human Gene Mutation Database in association with disease (Stenson et al., 2014). In the absence of functional studies, the consequence of the c.-42_-27del16 variant cannot be precisely determined.

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