ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp)

gnomAD frequency: 0.00003  dbSNP: rs537948663
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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 RCV001246469 SCV001419827 likely benign Hereditary insensitivity to pain with anhidrosis 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451602 SCV002736422 uncertain significance Inborn genetic diseases 2021-06-17 criteria provided, single submitter clinical testing The p.R774W variant (also known as c.2320C>T), located in coding exon 16 of the NTRK1 gene, results from a C to T substitution at nucleotide position 2320. The arginine at codon 774 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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. RCV001246469 SCV002090079 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-03-30 no assertion criteria provided clinical testing

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