ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.761-33T>A (rs80356674)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190819 SCV000244260 pathogenic Inborn genetic diseases 2014-01-21 criteria provided, single submitter clinical testing
Invitae RCV000020471 SCV001378075 pathogenic Hereditary insensitivity to pain with anhidrosis 2020-07-07 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the NTRK1 gene. It does not directly change the encoded amino acid sequence of the NTRK1 protein. This variant is present in population databases (rs80356674, ExAC 0.04%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in NTRK1, as homozygous, and in combination with other NTRK1 variants in many individuals and families affected with congenital insensitivity to pain with anhidrosis (CIPA) (PMID: 10982191, 27265460, 28345382, 19618435, 23112235, 29619836). This variant has also been observed to segregate with CIPA in several affected families (PMID: 27265460, 28345382). These findings are consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant is also known as IVS7-33T>A and c.935-33T>A in the literature. ClinVar contains an entry for this variant (Variation ID: 21308). Experimental studies have shown that this variant leads to aberrant splicing (PMID: 10982191). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020471 SCV000040904 pathologic Hereditary insensitivity to pain with anhidrosis 2008-08-05 no assertion criteria provided curation Converted during submission to Pathogenic.
Natera, Inc. RCV000020471 SCV001454770 pathogenic Hereditary insensitivity to pain with anhidrosis 2020-09-16 no assertion criteria provided clinical testing

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