ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.472C>T (p.Gln158Ter)

dbSNP: rs1085307871
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489135 SCV000577541 pathogenic not provided 2017-03-20 criteria provided, single submitter clinical testing The Q158X variant in the SYNGAP1 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 Q158X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, other nonsense and loss-of-function variants have been reported in the Human Gene Mutation Database in association with SYNGAP1-related disorders (Stenson et al., 2014).

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