ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs) (rs80356676)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479042 SCV000565335 pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The c.1842_1843insT variant in the NTRK1 gene has been reported previously in association with congenital insensitivity to pain with anhidrosis (CIPA) (Shatzky et al., 2000). The insertion causes a frameshift starting with codon Proline 615, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Pro615SerfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant to be pathogenic.
Baylor Genetics RCV000020469 SCV001520941 pathogenic Hereditary insensitivity to pain with anhidrosis 2019-09-05 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in multiple individuals [PMID: 18955016, 10861667, 28328124, ClinVar ID: 21306]
GeneReviews RCV000020469 SCV000040902 pathologic Hereditary insensitivity to pain with anhidrosis 2008-08-05 no assertion criteria provided curation Converted during submission to Pathogenic.

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