ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.851-7C>G

gnomAD frequency: 0.00001  dbSNP: rs761080232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372259 SCV001568878 uncertain significance Hereditary insensitivity to pain with anhidrosis 2021-09-01 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 (rs761080232, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with NTRK1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. RCV001372259 SCV002086540 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-09-18 no assertion criteria provided clinical testing

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