Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512701 | SCV003441303 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2022-05-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met63Valfs*13) in the FKTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fukuyama-type congenital muscular dystrophy (PMID: 9690476). ClinVar contains an entry for this variant (Variation ID: 3201). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000003354 | SCV000023512 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1998-07-23 | no assertion criteria provided | literature only |