ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1877dup (p.Leu627fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382532 SCV001581363 pathogenic Hereditary insensitivity to pain with anhidrosis 2020-03-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu621Alafs*6) in the NTRK1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with hereditary sensory neuropathy (PMID: 16373086). This variant is also known as c.1877_1878insA (p.Gln626fsX6) in the literature. Loss-of-function variants in NTRK1 are known to be pathogenic (PMID: 10982191). For these reasons, this variant has been classified as Pathogenic.

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