ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile)

dbSNP: rs768878991
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645735 SCV000767489 benign Intellectual disability, autosomal dominant 5 2023-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317404 SCV000851217 uncertain significance Inborn genetic diseases 2016-09-01 criteria provided, single submitter clinical testing The p.V866I variant (also known as c.2596G>A), located in coding exon 15 of the SYNGAP1 gene, results from a G to A substitution at nucleotide position 2596. The valine at codon 866 is replaced by isoleucine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
New York Genome Center RCV000645735 SCV001815738 uncertain significance Intellectual disability, autosomal dominant 5 2020-11-12 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.