ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.543del (p.Leu183fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807150 SCV000947189 pathogenic Hereditary insensitivity to pain with anhidrosis 2018-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu183Trpfs*14) in the NTRK1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant was reported in the homozygous state in an individual affected with hereditarysensory neuropathy type IV (PMID: 16373086). Loss-of-function variants in NTRK1 are known to be pathogenic (PMID: 10982191). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000790137 SCV000929528 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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