Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003466478 | SCV004205162 | likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 2023-02-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003779133 | SCV004641486 | pathogenic | not provided | 2023-07-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser2*) in the TSFM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSFM are known to be pathogenic (PMID: 17033963, 20435138, 25037205, 27677415). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TSFM-related conditions. This variant is not present in population databases (gnomAD no frequency). |