ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1117G>T (p.Gly373Ter)

dbSNP: rs1554121245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001175141 SCV001334271 pathogenic Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001175141 SCV005794197 pathogenic Intellectual disability, autosomal dominant 5 2024-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly373*) in the SYNGAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNGAP1 are known to be pathogenic (PMID: 23161826, 23708187, 26989088). 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: 917867). For these reasons, this variant has been classified as Pathogenic.

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