ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.662A>T (p.Glu221Val)

dbSNP: rs2537369185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Variantyx, Inc. RCV003110187 SCV003761518 likely pathogenic Intellectual disability, autosomal dominant 5 2023-01-30 criteria provided, single submitter clinical testing This is a nonsynonymous variant in the SYNGAP1 gene (OMIM: 603384). Pathogenic variants in this gene have been associated with autosomal dominant intellectual developmental disorder-5. This variant was identified de novo in this individual (PS2). Multiple computational algorithms predict a deleterious effect for this substitution (PP3). This variant is absent from control populations (https://gnomad.broadinstitute.org/) (PM2_Supporting). Based on the current evidence, this variant is classified as likely pathogenic for autosomal dominant intellectual developmental disorder-5 This variant has not been reported in individuals with SYNGAP1-related disorders in the databases available for review.

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