ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.265C>T (p.Arg89Cys) (rs757031354)

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Total submissions: 3
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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
Invitae RCV000804531 SCV000944445 uncertain significance Hereditary insensitivity to pain with anhidrosis 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 119 of the NTRK1 protein (p.Arg119Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs757031354, ExAC 0.003%). This variant has not been reported in the literature in individuals with NTRK1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
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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