ClinVar Miner

Submissions for variant NM_001127208.3(TET2):c.2429A>G (p.Gln810Arg)

dbSNP: rs28555446
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753505 SCV002005560 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing Reported in an individual with a classic myeloproliferative neoplasm, but it is unclear if this represented a somatic or germline variant (Martinez-Aviles et al., 2012); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21904853, 24728327, 32440014)
Genetic Services Laboratory, University of Chicago RCV000122118 SCV002068960 uncertain significance not specified 2021-12-01 criteria provided, single submitter clinical testing DNA sequence analysis of the TET2 gene demonstrated a sequence change, c.2429A>G, in exon 3 that results in an amino acid change, p.Gln810Arg. This sequence change has been described in the gnomAD database with a frequency of 0.72% in the African/African American subpopulation (dbSNP rs28555446). The p.Gln810Arg change affects a highly conserved amino acid residue located in a domain of the TET2 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gln810Arg substitution. This sequence change does not appear to have been previously described in individuals with TET2-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Gln810Arg change remains unknown at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001753505 SCV003296025 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
ITMI RCV000122118 SCV000086333 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003945104 SCV004762503 benign TET2-related disorder 2020-12-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.