ClinVar Miner

Submissions for variant NM_006180.6(NTRK2):c.1279G>T (p.Gly427Cys)

dbSNP: rs142393662
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001263254 SCV001441291 likely pathogenic Seizure; Intellectual disability 2020-01-08 criteria provided, single submitter clinical testing The c.1279G>T (p.Gly427Cys) variant identified in the NTRK2 gene substitutes a well conserved Glycine for Cysteine at amino acid 427/839 (coding exon 13/21). This variant is absent from gnomAD suggesting it is not a common benign variant in the populations represented in this database. In silico algorithms do not agree on the effect of this variant, as it is predicted both Neutral (Provean; score: -1.75) and Damaging (SIFT; score: 0.023) to the function of the canonical transcript. The p.Gly427 residue is outside of a mapped domain, however itis 7 amino acids upstream of the recurrent pathogenic p.Tyr434Cys variant identified in several individuals affected with epileptic encephalopathy [PMID: 29100083]. This variant was identified de novo in an indiviudal submitted for clinical WGS. The c.1279G>T (p.Gly427Cys) variant identified in the NTRK2 gene is reported here as Likely Pathogenic.

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.