ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.297+1G>A (rs796052351)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187092 SCV000240667 pathogenic not provided 2012-06-19 criteria provided, single submitter clinical testing IVS3+1 G>A: c.297+1 G>A in intron 3 of the CLN6 gene (NM_017882.2). The c.297+1 G>A splice site mutation in the CLN6 gene destroys the canonical splice donor site in intron 3. 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 previously reported to our knowledge, it is considered a disease-causing mutation. The variant is found in INFANT-EPI panel(s).

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