ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys)

gnomAD frequency: 0.00004  dbSNP: rs757031354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708807 SCV000837793 uncertain significance Familial medullary thyroid carcinoma 2018-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000804531 SCV000944445 uncertain significance Hereditary insensitivity to pain with anhidrosis 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 119 of the NTRK1 protein (p.Arg119Cys). This variant is present in population databases (rs757031354, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with NTRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584595). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt NTRK1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000804531 SCV004048645 uncertain significance Hereditary insensitivity to pain with anhidrosis 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000804531 SCV001454763 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-09-16 no assertion criteria provided clinical testing

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