ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)

dbSNP: rs1554122249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526635 SCV001737066 pathogenic Intellectual disability criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568842 SCV003439405 pathogenic Intellectual disability, autosomal dominant 5 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1172661). This premature translational stop signal has been observed in individual(s) with clinical features of SYNGAP1-related conditions (PMID: 26079862). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln928*) 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).
Neuberg Centre For Genomic Medicine, NCGM RCV002568842 SCV004100476 likely pathogenic Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing The stop gained p.Q928* in SYNGAP1 (NM_006772.3) has been reported to ClinVar as Pathogenic but no details are available for independent assesment. The p.Q928* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation.Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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