Submissions for variant NM_006180.6(NTRK2):c.25G>A (p.Gly9Arg)

gnomAD frequency: 0.00004  dbSNP: rs1373336521

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
New York Genome Center	RCV001837231	SCV002097732	uncertain significance	Developmental and epileptic encephalopathy, 58	2021-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003382650	SCV004088312	uncertain significance	Inborn genetic diseases	2023-08-20	criteria provided, single submitter	clinical testing	The c.25G>A (p.G9R) alteration is located in exon 4 (coding exon 1) of the NTRK2 gene. This alteration results from a G to A substitution at nucleotide position 25, causing the glycine (G) at amino acid position 9 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003772356	SCV004678739	likely benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005397035	SCV006055902	uncertain significance	Obesity, hyperphagia, and developmental delay; Developmental and epileptic encephalopathy, 58	2021-07-30	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV004746460	SCV005345000	uncertain significance	NTRK2-related disorder	2024-04-10	no assertion criteria provided	clinical testing	The NTRK2 c.25G>A variant is predicted to result in the amino acid substitution p.Gly9Arg. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.