ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.269+227_343del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043393 SCV001207137 likely pathogenic Hereditary insensitivity to pain with anhidrosis 2019-03-09 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exon 4 and part of exon 5 (c.359+227_433del) of the NTRK1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NTRK1-related conditions. Loss-of-function variants in NTRK1 are known to be pathogenic (PMID: 10982191). 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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