ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.2046+3A>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000013095 SCV000835562 likely pathogenic Hereditary insensitivity to pain with anhidrosis 2018-03-13 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the NTRK1 gene. It does not directly change the encoded amino acid sequence of the NTRK1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with disease in a family affected with congenital insensitivity to pain with anhidrosis (PMID: 8696348). It has also been reported in an individual with sensory and autonomic neuropathies (PMID: 19651702). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this splice variant causes aberrant splicing and a partial exon deletion (PMID: 8696348). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000013095 SCV000033341 pathogenic Hereditary insensitivity to pain with anhidrosis 2001-12-01 no assertion criteria provided literature only

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