Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553071 | SCV000630833 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2022-01-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with FKRP-related conditions. 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.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. ClinVar contains an entry for this variant (Variation ID: 459229). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg48Valfs*20) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 448 amino acid(s) of the FKRP protein. |