Submissions for variant NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)

dbSNP: rs1554215959

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	RCV000500228	SCV000598174	likely pathogenic	Mitochondrial DNA depletion syndrome 13	2017-08-10	criteria provided, single submitter	clinical testing	The NM_012160.4:c.1698A>G (NP_036292.2:p.Ile566Met) [GRCH38: NC_000006.12:g.98875419T>C] variant in FBXL4 gene is interpretated to be a Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. PS4:Prevalence of variant in affecteds statistically increased over controls. PM2:This variant is absent in key population databases. PP1:This variant is co-segregated with Mitochondrial DNA depletion syndrome 13 in multiple affected family members. PP2:This is a missense variant in FBXL4 with a low rate of benign and high rate of pathogenic missense variations. PP4:Patient’s phenotype or family history is highly specific for FBXL4. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Likely Pathogenic.
Baylor Genetics	RCV000500228	SCV001522076	pathogenic	Mitochondrial DNA depletion syndrome 13	2019-12-26	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000500228	SCV005038866	likely pathogenic	Mitochondrial DNA depletion syndrome 13	2024-03-14	criteria provided, single submitter	clinical testing