ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.167G>A (p.Trp56Ter)

dbSNP: rs1057520571
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420815 SCV000516071 likely pathogenic not provided 2017-03-22 criteria provided, single submitter clinical testing The W56X variant in the CLN6 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 W56X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The W56X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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