ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1710_1738del (p.Gln570fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003069132 SCV003466684 pathogenic Hereditary insensitivity to pain with anhidrosis 2022-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NTRK1-related conditions. This variant is present in population databases (rs747947642, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln564Hisfs*11) in the NTRK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NTRK1 are known to be pathogenic (PMID: 10982191).
Fulgent Genetics, Fulgent Genetics RCV003069132 SCV005678475 likely pathogenic Hereditary insensitivity to pain with anhidrosis 2024-05-09 criteria provided, single submitter clinical testing

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