ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5720-5T>G

gnomAD frequency: 0.00001  dbSNP: rs189330326
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037881 SCV001201316 uncertain significance Achondrogenesis, type IA 2022-08-20 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the TRIP11 gene. It does not directly change the encoded amino acid sequence of the TRIP11 protein. This variant is present in population databases (rs189330326, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. ClinVar contains an entry for this variant (Variation ID: 836694). 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.

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