Submissions for variant NM_001278716.2(FBXL4):c.*5A>G

gnomAD frequency: 0.00361  dbSNP: rs142988015

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	RCV000502735	SCV000598533	benign	Mitochondrial DNA depletion syndrome 13	2017-08-10	criteria provided, single submitter	reference population	The NM_012160.4:c.*5A>G (NP_036292.2:p.=) [GRCH38: NC_000006.12:g.98874273T>C] variant in FBXL4 gene is interpretated to be a Benign based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. BS1:The minor allele frequency of this allele is high for Mitochondrial DNA depletion syndrome 13. BS2:Observation of the variant is in controls is inconsistent with penetrance of Mitochondrial DNA depletion syndrome 13. BP4:Computational evidence/predictors indicate no impact on the FBXL4 structure, function, or protein-protein interaction. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Benign.
GeneDx	RCV001672813	SCV001886042	benign	not provided	2020-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902804	SCV004732259	benign	FBXL4-related disorder	2020-03-30	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).