ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1938+3A>C (rs914061514)

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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 pathogenic Hereditary insensitivity to pain with anhidrosis 2019-08-22 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 observed to be homozygous in individuals affected with congenital insensitivity to pain with anhidrosis and to segregate with disease in a family (PMID: 8696348, 19651702). This variant is also known as c.2046+3A>C in the literature. ClinVar contains an entry for this variant (Variation ID: 12301). 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013095 SCV000033341 pathogenic Hereditary insensitivity to pain with anhidrosis 2019-05-14 no assertion criteria provided literature only

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