Submissions for variant NM_001127208.3(TET2):c.4145A>G (p.His1382Arg)

dbSNP: rs1131691943

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000494659	SCV000583193	uncertain significance	not provided	2017-05-25	criteria provided, single submitter	clinical testing	The H1382R variant in the TET2 gene has been previously reported as a somatic variant in acute myeloid leukemia and angioimmunoblastic T-cell lymphoma, but has not been reported in the germline (DiNardo et al., 2016; Schwartz et al., 2017). The H1382R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H1382R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position within the iron-chelating motif that is conserved across species (Hu et al., 2013). In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H1382R as a variant of uncertain significance.
OMIM	RCV001270922	SCV001451726	pathogenic	Immunodeficiency 75	2023-03-15	no assertion criteria provided	literature only
Molecular Diagnostics Laboratory, University of Rochester Medical Center	RCV003447535	SCV004175184	uncertain significance	Angioimmunoblastic T-cell lymphoma		no assertion criteria provided	provider interpretation