ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.436C>T (p.Gln146Ter) (rs879253889)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236167 SCV000292638 pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing The Q176X nonsense mutation in the NTRK1 gene has been reported previously in association with congenital insensitivity to pain with anhidrosis (Indo et al., 2001; Indo et al., 2012; Davidson et al., 2012; NTRK1 LOVD database). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Homozygosity for the Q176X mutation is consistent with a diagnosis of HSAN IV
Invitae RCV000985097 SCV001390941 pathogenic Hereditary insensitivity to pain with anhidrosis 2019-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln176*) 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 several individuals affected with hereditary sensory autonomic neuropathy (PMID: 11668614, 28328124). ClinVar contains an entry for this variant (Variation ID: 245651). Loss-of-function variants in NTRK1 are known to be pathogenic (PMID: 10982191). For these reasons, this variant has been classified as Pathogenic.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985097 SCV001133064 pathogenic Hereditary insensitivity to pain with anhidrosis 2019-09-26 no assertion criteria provided clinical testing

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