Submissions for variant NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)

dbSNP: rs398123059

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000056327	SCV000598188	pathogenic	Mitochondrial DNA depletion syndrome 13	2017-08-10	criteria provided, single submitter	clinical testing	The NM_012160.4:c.1555C>T (NP_036292.2:p.Gln519Ter) [GRCH38: NC_000006.12:g.98875562G>A] variant in FBXL4 gene is interpretated to be a Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID:23993193 ; 25868664 . This variant meets one or more of the following evidence codes reported in the ACMG-guideline. PVS1:This variant is a predcted null variant in FBXL4 where loss of function is a known mechanism of disease. 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. PP4:Patient’s phenotype or family history is highly specific for FBXL4. PP5:Reputable source(s) suggest that the variant is pathogenic. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV001090674	SCV001246350	pathogenic	not provided	2019-12-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000056327	SCV001428673	pathogenic	Mitochondrial DNA depletion syndrome 13	2020-02-01	criteria provided, single submitter	clinical testing
OMIM	RCV000056327	SCV000087496	pathogenic	Mitochondrial DNA depletion syndrome 13	2013-09-05	no assertion criteria provided	literature only