ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3192G>C (p.Gln1064His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785832 SCV005400891 uncertain significance Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing The observed missense variant c.3192G>C(p.Gln1064His) in the SYNGAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Gln at position 1064 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen - Possibly damaging, SIFT - Tolerated and MutationTaster - Polymorphism) predicts conflicting evidence on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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