ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs) (rs1571695851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382531 SCV001581362 pathogenic Hereditary insensitivity to pain with anhidrosis 2020-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln308Hisfs*154) in the NTRK1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with congenital insensitivity to pain (PMID: 10330344). It is also known as c.1008_1014delGCCGGCA in the literature. 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 RCV000790289 SCV000929693 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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