Submissions for variant NM_001278716.2(FBXL4):c.702T>C (p.Leu234=)

gnomAD frequency: 0.00001  dbSNP: rs1554221171

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000504466	SCV000598319	uncertain significance	Mitochondrial DNA depletion syndrome 13	2017-08-10	criteria provided, single submitter	reference population	The NM_012160.4:c.702T>C (NP_036292.2:p.Leu234=) [GRCH38: NC_000006.12:g.98917530A>G] 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.
GeneDx	RCV001559548	SCV001781795	likely benign	not provided	2020-04-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001559548	SCV002323948	likely benign	not provided	2021-12-02	criteria provided, single submitter	clinical testing