ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)

gnomAD frequency: 0.00050  dbSNP: rs147443162
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241331 SCV001414344 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001569507 SCV001793599 uncertain significance not provided 2021-02-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Ambry Genetics RCV002379925 SCV002692499 uncertain significance Inborn genetic diseases 2019-11-07 criteria provided, single submitter clinical testing The p.N434K variant (also known as c.1302C>G), located in coding exon 10 of the NTRK1 gene, results from a C to G substitution at nucleotide position 1302. The asparagine at codon 434 is replaced by lysine, an amino acid with similar properties. This amino acid position is 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. RCV001241331 SCV002086563 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-01-21 no assertion criteria provided clinical testing

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