ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2386C>T (p.Gln796Ter)

dbSNP: rs376823689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760736 SCV000890629 likely pathogenic not provided 2018-09-25 criteria provided, single submitter clinical testing The Q796X variant in the CLCN2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q796X variant is observed in 1/15302 (0.0065%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). We interpret Q796X as a likely pathogenic variant.
GeneReviews RCV000201824 SCV000256595 not provided Leukoencephalopathy with mild cerebellar ataxia and white matter edema no assertion provided literature only

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