Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047619 | SCV001211586 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2023-10-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe110Tyrfs*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 present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 844703). For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV003393805 | SCV004121345 | pathogenic | FKTN-related condition | 2022-11-14 | criteria provided, single submitter | clinical testing | The FKTN c.329_330delTT variant is predicted to result in a frameshift and premature protein termination (p.Phe110Tyrfs*13). This variant was reported in an individual with dilated cardiomyopathy; however, it was not clear whether one or two variant alleles were detected and no additional information was provided to support causation (Mazzarotto et al 2020. PubMed ID: 31983221, Table S3). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-108363587-CTT-C). Frameshift variants in FKTN are expected to be pathogenic for autosomal recessive disease. This variant is interpreted as pathogenic. |