ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln)

gnomAD frequency: 0.00003  dbSNP: rs748133401
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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 RCV000631318 SCV000752347 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404734 SCV002711731 uncertain significance Inborn genetic diseases 2019-10-31 criteria provided, single submitter clinical testing The p.R587Q variant (also known as c.1760G>A), located in coding exon 13 of the NTRK1 gene, results from a G to A substitution at nucleotide position 1760. The arginine at codon 587 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000631318 SCV001463405 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-17 no assertion criteria provided clinical testing

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