ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4955-15_4955-2del (rs762453492)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598641 SCV000710708 likely pathogenic not provided 2018-02-27 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the TUBGCP6 gene. The c.4955-15_4955-2del14 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Thec.4955-15_4955-2del14 variant destroys the canonical splice acceptor site in intron 22. It 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. Therefore, this variant is likely pathogenic; however, the possibility that is is benign cannot be excluded.

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