Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413241 | SCV000491535 | likely pathogenic | not provided | 2016-06-30 | criteria provided, single submitter | clinical testing | The c.3893dupC variant in the TUBGCP6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3893dupC variant causes a frameshift starting with codon Glycine 1299, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 69 of the new reading frame, denoted p.Gly1299TrpfsX69. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3893dupC 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.3893dupC variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
Labcorp Genetics |
RCV000413241 | SCV002239521 | pathogenic | not provided | 2021-06-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 372990). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs760024638, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Gly1299Trpfs*69) 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). |
Daryl Scott Lab, |
RCV005256605 | SCV005911577 | pathogenic | Microcephaly and chorioretinopathy 1 | 2024-04-01 | criteria provided, single submitter | clinical testing | PVS1, PM2, PM3, PP1 |