ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.108-6T>G (rs796052410)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187329 SCV000240911 uncertain significance not provided 2014-09-17 criteria provided, single submitter clinical testing c.108-6 T>G: IVS2-6 T>G in intron 2 of the DNAJC5 gene (NM_025219.2). The c.108-6 T>G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.108-6 T>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In-silico splice prediction models predict that c.108-6 T>G may damage or even destroy the natural splice acceptor site in intron 2, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Additionally, to our knowledge, splice mutations have not been reported in the DNAJC5 gene. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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