ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.517A>T (p.Lys173Ter)

dbSNP: rs1553567304
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578751 SCV000680997 pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing The K173X variant in the SCN2A 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 K173X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret K173X as a pathogenic variant

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