ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.-12+1_-12+28del (rs1306801393)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520082 SCV000618054 uncertain significance not provided 2018-01-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DNAJC5 gene. The c.-12+1_-12+28del28 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. No data are available from control populations to assess the frequency of this variant. The c.-12+1_-12+28del28 variant is predicted to destroy the canonical splice donor site in intron 1. However, this deletion occurs in a region that is not conserved. Additionally, regulatory variants have not been reported in the Human Gene Mutation Database in association with Kufs disease (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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