ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3369_3380del (p.Gly1125_Gly1128del)

dbSNP: rs2151191080
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881498 SCV002148969 pathogenic Intellectual disability, autosomal dominant 5 2025-01-15 criteria provided, single submitter clinical testing This variant, c.3369_3380del, results in the deletion of 4 amino acid(s) of the SYNGAP1 protein (p.Gly1125_Gly1128del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1386516). This variant disrupts a region of the SYNGAP1 protein in which other variant(s) (p.Gly1127Arg) have been determined to be pathogenic (internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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