ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter)

gnomAD frequency: 0.00001  dbSNP: rs724159975
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002510792 SCV002820531 likely pathogenic not provided 2023-01-10 criteria provided, single submitter clinical testing Identified with a second TUBGCP6 variant in a patient with microcephaly with simplified gyral pattern, retinal dystrophy, congenital heart defects, and triphalangeal thumbs in published literature (Martin et al., 2014); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25344692, 34426522, Chen2022[CaseReport])
Labcorp Genetics (formerly Invitae), Labcorp RCV002510792 SCV003444609 pathogenic not provided 2024-05-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg739*) 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 (rs724159975, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with microcephalic primordial dwarfism and centriole dysfunction (PMID: 25344692). ClinVar contains an entry for this variant (Variation ID: 162403). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000149798 SCV000196607 pathogenic Microcephaly and chorioretinopathy 1 2014-12-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.