Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001222642 | SCV001394752 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr361*) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 135 amino acid(s) of the FKRP protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FKRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 950839). This variant disrupts a region of the FKRP protein in which other variant(s) (p.Ser385*) have been determined to be pathogenic (PMID: 11592034, 12666124, 12707425, 14742276). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV003145418 | SCV003833394 | likely pathogenic | not provided | 2022-06-22 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003469385 | SCV004197403 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2023-09-19 | criteria provided, single submitter | clinical testing |