Submissions for variant NM_001278716.2(FBXL4):c.468T>C (p.Ala156=)

gnomAD frequency: 0.00068  dbSNP: rs114916821

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000890791	SCV000518538	benign	not provided	2019-06-14	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000500898	SCV000598283	benign	Mitochondrial DNA depletion syndrome 13	2017-08-10	criteria provided, single submitter	reference population	The NM_012160.4:c.468T>C (NP_036292.2:p.Ala156=) [GRCH38: NC_000006.12:g.98926521A>G] 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000890791	SCV001034564	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing