ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1529T>G (p.Ile510Ser)

dbSNP: rs1554121364
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521491 SCV000618430 likely pathogenic not provided 2017-05-03 criteria provided, single submitter clinical testing The I510S variant in the SYNGAP1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. It was identified as a de novo variant with confirmed parentage in a patient with seizures and intellectual disability previously tested at GeneDx. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I510S variant is a non-conservative amino acid substitution that occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret I510S as a likely pathogenic variant.

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