ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1492-9G>A

gnomAD frequency: 0.00001  dbSNP: rs765557133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309143 SCV001498632 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1011358). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs765557133, gnomAD 0.01%). This sequence change falls in intron 6 of the TUBGCP6 gene. It does not directly change the encoded amino acid sequence of the TUBGCP6 protein.
GeneDx RCV001309143 SCV002571595 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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