ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.484+1G>A (rs1232901259)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218483 SCV001390365 pathogenic Hereditary insensitivity to pain with anhidrosis 2019-07-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the NTRK1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with congenital insensitivity to pain with anhidrosis (PMID: 11139246, 21708027, 22957891). This variant is also known as IVS5+1G>A in the literature. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NTRK1 are known to be pathogenic (PMID: 10982191). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789502 SCV000928858 likely benign Charcot-Marie-Tooth disease no assertion criteria provided literature only

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