Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598091 | SCV000708157 | pathogenic | not provided | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001854092 | SCV002236732 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2023-09-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 501684). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln220Thrfs*6) 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). |