Submissions for variant NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)

dbSNP: rs747618415

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000503844	SCV000598519	uncertain significance	Mitochondrial DNA depletion syndrome 13	2017-08-10	criteria provided, single submitter	reference population	The NM_012160.4:c.1772A>C (NP_036292.2:p.Asp591Ala) [GRCH38: NC_000006.12:g.98874372T>G] 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. PP3:Computational evidence/predictors indicate the variant has deleterious effect on FBXL4 structure, function, or protein-protein interaction. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Insufficient Evidence.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000503844	SCV000680230	likely pathogenic	Mitochondrial DNA depletion syndrome 13	2017-11-16	criteria provided, single submitter	clinical testing