ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs)

dbSNP: rs2537392581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003159413 SCV003853012 pathogenic not provided 2023-11-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003615931 SCV004394354 pathogenic Intellectual disability, autosomal dominant 5 2024-06-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly391Alafs*12) 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: 2446583). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV003159413 SCV005196858 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing

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