Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002048367 | SCV002299638 | pathogenic | Leukocyte adhesion deficiency type II | 2023-07-14 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SLC35C1 protein in which other variant(s) (Thr308Arg) have been determined to be pathogenic (PMID: 11326280, 12116250). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1514864). This variant has not been reported in the literature in individuals affected with SLC35C1-related conditions. This sequence change creates a premature translational stop signal (p.Gln260*) in the SLC35C1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 105 amino acid(s) of the SLC35C1 protein. |