ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2078C>G (p.Ser693Ter)

dbSNP: rs2147185153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001922194 SCV002149245 pathogenic not provided 2021-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser693*) 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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. For these reasons, this variant has been classified as Pathogenic.

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