ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln)

gnomAD frequency: 0.00002  dbSNP: rs199826686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795187 SCV000934631 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360920 SCV002656471 uncertain significance Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing The p.E407Q variant (also known as c.1219G>C), located in coding exon 9 of the NTRK1 gene, results from a G to C substitution at nucleotide position 1219. The glutamic acid at codon 407 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000795187 SCV001459294 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-03-10 no assertion criteria provided clinical testing

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