ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.2046dup (p.Val683fs)

dbSNP: rs2102925337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251084 SCV002521477 likely pathogenic Hereditary insensitivity to pain with anhidrosis 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV002251084 SCV004321732 pathogenic Hereditary insensitivity to pain with anhidrosis 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (Splice site) 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 variant has not been reported in the literature in individuals affected with NTRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1687402). For these reasons, this variant has been classified as Pathogenic.

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