Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_006180.6(NTRK2):c.970T>A(p.Leu324Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as other (no stars).
NTRK2 (HGNC:8032): (neurotrophic receptor tyrosine kinase 2) This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Loss of catalytic residue at L324 (P = 0.0395);Loss of catalytic residue at L324 (P = 0.0395);Loss of catalytic residue at L324 (P = 0.0395);Loss of catalytic residue at L324 (P = 0.0395);Loss of catalytic residue at L324 (P = 0.0395);Loss of catalytic residue at L324 (P = 0.0395);Loss of catalytic residue at L324 (P = 0.0395);Loss of catalytic residue at L324 (P = 0.0395);