ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)

dbSNP: rs1057519546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000417030 SCV000494548 likely pathogenic Intellectual disability, autosomal dominant 5 2016-11-16 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000417030 SCV001150274 pathogenic Intellectual disability, autosomal dominant 5 2019-05-22 criteria provided, single submitter clinical testing
3billion RCV000417030 SCV004013540 pathogenic Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.77). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000375528 / PMID: 26079862). The variant has been previously reported as de novo in a similarly affected individual (PMID: 25533962). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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