ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.509+5A>C

dbSNP: rs780314191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421311 SCV000536117 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing The c.509+5A>C variant in the SYNGAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to damage the natural splice donor site in intron 5, which may cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.509+5A>C variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.509+5A>C as a variant of uncertain significance.
Invitae RCV000689210 SCV000816850 likely benign Intellectual disability, autosomal dominant 5 2023-08-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000689210 SCV003818864 uncertain significance Intellectual disability, autosomal dominant 5 2019-10-02 criteria provided, single submitter clinical testing

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