ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser)

gnomAD frequency: 0.00006  dbSNP: rs200935209
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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 RCV000945399 SCV001091408 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416216 SCV002725054 uncertain significance Inborn genetic diseases 2020-12-18 criteria provided, single submitter clinical testing The p.T699S variant (also known as c.2095A>T), located in coding exon 15 of the NTRK1 gene, results from an A to T substitution at nucleotide position 2095. The threonine at codon 699 is replaced by serine, an amino acid with 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. RCV000945399 SCV001463412 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-18 no assertion criteria provided clinical testing

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