ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1939-6T>C (rs762866535)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438099 SCV000523581 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000631339 SCV000752371 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-05-05 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. This variant is present in population databases (rs762866535, ExAC 0.002%). This variant has not been reported in the literature in individuals with NTRK1-related disease. ClinVar contains an entry for this variant (Variation ID: 383251). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000631339 SCV001463411 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-01-24 no assertion criteria provided clinical testing

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