ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.575-19G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386283 SCV001586460 pathogenic Hereditary insensitivity to pain with anhidrosis 2020-09-09 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the NTRK1 gene. It does not directly change the encoded amino acid sequence of the NTRK1 protein. This variant is present in population databases (rs370828525, ExAC 0.01%). This variant has been observed in several individuals affected with congenital insensitivity to pain with anhidrosis (CIPA) (PMID: 29770739). In one individual this variant was reported to occur in trans (on the opposite chromosome) from a pathogenic variant. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29770739). For these reasons, this variant has been classified as Pathogenic.

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