ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.91C>T (p.Arg31Ter)

dbSNP: rs1554304655
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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 RCV001382704 SCV001581606 pathogenic Intellectual disability, autosomal dominant 5 2024-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg31*) 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 premature translational stop signal has been observed in individual(s) with SYNGAP1-related conditions (PMID: 30541864). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1070521). For these reasons, this variant has been classified as Pathogenic.

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