Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000503941 | SCV000598402 | uncertain significance | Mitochondrial DNA depletion syndrome 13 | 2017-08-10 | criteria provided, single submitter | reference population | The NM_012160.4:c.1125C>T (NP_036292.2:p.Ser375=) [GRCH38: NC_000006.12:g.98899460G>A] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Conflicting Evidence based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. PM2:This variant is absent in key population databases. BP4:Computational evidence/predictors indicate no impact on the FBXL4 structure, function, or protein-protein interaction. BP7:The variant is silent with non predicted splice impact. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Conflicting Evidence. |
Invitae | RCV000898248 | SCV001042445 | likely benign | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935320 | SCV004753340 | likely benign | FBXL4-related condition | 2019-06-03 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |