ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3082C>T (p.Gln1028Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389901 SCV001591424 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1028*) in the TUBGCP6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TUBGCP6 are known to be pathogenic (PMID: 25344692). This variant is present in population databases (rs755344399, ExAC 0.002%). This variant has not been reported in the literature in individuals with TUBGCP6-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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