Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671226 | SCV000796181 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2017-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003754883 | SCV004426528 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2023-01-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FKRP protein in which other variant(s) (p.Q460*) have been determined to be pathogenic (PMID: 16476814; Invitae). 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: 555406). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln72*) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 424 amino acid(s) of the FKRP protein. |