ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.2035del (p.Val679fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207315 SCV001378660 likely pathogenic Hereditary insensitivity to pain with anhidrosis 2019-06-24 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the NTRK1 gene (p.Val709Trpfs*105). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acids of the NTRK1 protein and extend the protein by an additional 23 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NTRK1-related conditions. This variant disrupts the p.Pro762 amino acid residue in NTRK1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15534759, 22032467, 23112235). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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