Submissions for variant NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln)

gnomAD frequency: 0.00011  dbSNP: rs200372976

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	RCV000502337	SCV000598464	uncertain significance	Mitochondrial DNA depletion syndrome 13	2017-08-10	criteria provided, single submitter	reference population	The NM_012160.4:c.1445G>A (NP_036292.2:p.Arg482Gln) [GRCH38: NC_000006.12:g.98875672C>T] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Insufficient 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. PM5:This variant causes novel missense change at an amino acid residue where a different pathogenic missense change has been seen before. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Insufficient Evidence.
Invitae	RCV002056894	SCV002382811	likely benign	not provided	2023-12-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915400	SCV004742314	likely benign	FBXL4-related condition	2023-09-18	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).