Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000997946 | SCV001153722 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | TUBGCP6: BP4 |
Invitae | RCV000997946 | SCV001232598 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 197 of the TUBGCP6 protein (p.Ser197Pro). This variant is present in population databases (rs138586345, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. 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: 809385). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000997946 | SCV001824027 | uncertain significance | not provided | 2022-05-24 | criteria provided, single submitter | clinical testing | Observed with a nonsense variant on the opposite allele (in trans) in a patient with lissencephaly, generalized tonic clonic seizures, myoclonic seizures, and moderate intellectual disability in the published literature (Kolbjer et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33453472, 33726816) |
Revvity Omics, |
RCV001535501 | SCV003819881 | uncertain significance | Microcephaly and chorioretinopathy 1 | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003493768 | SCV004242513 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001535501 | SCV001749454 | not provided | Microcephaly and chorioretinopathy 1 | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 11-05-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |