ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.486+2T>C (rs796052355)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187099 SCV000240674 pathogenic not provided 2013-10-18 criteria provided, single submitter clinical testing c.486+2 T>C: IVS4+2 T>C in intron 4 of the CLN6 gene (NM_017882.2). The c.486+2 T>C splice site mutation in CLN6 destroys the canonical splice donor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this mutation has not been reported previously to our knowledge, it is expected to be a pathogenic mutation. The variant is found in CHILD-EPI panel(s).

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