Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002568864 | SCV003460187 | likely pathogenic | Larsen-like syndrome, B3GAT3 type | 2024-07-08 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the B3GAT3 mRNA. The next in-frame methionine is located at codon 207. This variant is present in population databases (rs139759238, gnomAD 0.005%). Disruption of the initiator codon has been observed in individual(s) with B3GAT3-related conditions (PMID: 27871226). ClinVar contains an entry for this variant (Variation ID: 1174609). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects B3GAT3 function (PMID: 27871226). This variant disrupts a region of the B3GAT3 protein in which other variant(s) (p.Arg161Trp) have been observed in individuals with B3GAT3-related conditions (PMID: 31438591). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Gene |
RCV001528207 | SCV003925861 | pathogenic | not provided | 2022-11-21 | criteria provided, single submitter | clinical testing | Initiation codon variant in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Diagnostic Laboratory, |
RCV001528207 | SCV001739528 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001528207 | SCV001809507 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528207 | SCV001967998 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |