ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1837C>T (p.Arg613Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035125 SCV001198440 pathogenic Hereditary insensitivity to pain with anhidrosis 2019-05-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 643 of the NTRK1 protein (p.Arg643Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another NTRK1 variant in individual(s) with hereditary sensory and autonomic neuropathy (PMID: 10330344, 29770739, 22653642). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect NTRK1 protein function (PMID: 11159935, 11719521). This variant disrupts the p.Arg643 amino acid residue in NTRK1. Other variant(s) that disrupt this residue have been observed in individuals with NTRK1-related conditions (PMID: 28328124), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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