ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter)

gnomAD frequency: 0.00004  dbSNP: rs192919234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193685 SCV000249327 pathogenic Microcephaly and chorioretinopathy with or without intellectual disability 2014-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853120 SCV002137372 pathogenic not provided 2022-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg299*) 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 (rs192919234, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 212517). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
DASA RCV002298518 SCV002588778 pathogenic Microcephaly and chorioretinopathy 1 2022-11-03 criteria provided, single submitter clinical testing The c.895C>T;p.(Arg299*) variant creates a premature translational stop signal in the TUBGCP6 gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (Clinvar ID:212517) - PS4_supporting. The variant is present at low allele frequencies population databases (rs192919234 – gnomAD 0.0002127%; ABraOM 0.000427 frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.

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