ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.509+1G>A

dbSNP: rs1561781989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316836 SCV000850604 pathogenic Inborn genetic diseases 2017-04-20 criteria provided, single submitter clinical testing The c.509+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 5 of the SYNGAP1 gene. This alteration was detected as de novo in an individual with moderate intellectual disability (ID) (Mignot C et al. J. Med. Genet., 2016 Aug;53:511-22). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.
GeneDx RCV003442056 SCV004169585 pathogenic not provided 2023-05-18 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26989088, 30572772, 34924933)

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