Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804630 | SCV000944547 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2023-03-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FKTN protein in which other variant(s) (p.Phe390Ilefs*14) have been determined to be pathogenic (PMID: 17878207, 18177472, 18752264, 19266496, 27065010). 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: 649651). 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.Lys385*) in the FKTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acid(s) of the FKTN protein. |
Baylor Genetics | RCV003467404 | SCV004199758 | likely pathogenic | Dilated cardiomyopathy 1X | 2023-01-18 | criteria provided, single submitter | clinical testing |