ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1754del (p.Leu585fs)

dbSNP: rs1571699945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580545 SCV001810535 uncertain significance Hereditary insensitivity to pain with anhidrosis 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001580545 SCV004292932 pathogenic Hereditary insensitivity to pain with anhidrosis 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu579Argfs*73) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital insensitivity to pain with anhidrosis (PMID: 10982191). ClinVar contains an entry for this variant (Variation ID: 637429). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789607 SCV000928970 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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