ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1983+1G>T

gnomAD frequency: 0.00001  dbSNP: rs770971683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485054 SCV000571434 likely pathogenic not provided 2016-08-26 criteria provided, single submitter clinical testing The c.1983+1G>T variant in the TUBGCP6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 10. The c.1983+1G>T variant is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1983+1G>T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1983+1G>T variant in the TUBGCP6 gene is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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