Submissions for variant NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)

gnomAD frequency: 0.00002  dbSNP: rs387907236

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000414395	SCV000490978	pathogenic	not provided	2016-11-14	criteria provided, single submitter	clinical testing	The R148X nonsense variant has been reported previously in association with 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) (Wortmann et al. (2012). The R148X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret R148X to be pathogenic.
Baylor Genetics	RCV000029218	SCV000992824	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2017-12-31	criteria provided, single submitter	clinical testing
Center for Molecular Medicine, Children’s Hospital of Fudan University	RCV000029218	SCV001190548	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2019-05-10	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000414395	SCV001447083	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000029218	SCV002554869	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2022-03-15	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000029218	SCV004801248	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2024-03-14	criteria provided, single submitter	research
OMIM	RCV000029218	SCV000051864	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2012-06-10	no assertion criteria provided	literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000029218	SCV001133068	likely pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2019-09-26	no assertion criteria provided	clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000029218	SCV001438878	likely pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		no assertion criteria provided	clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV000029218	SCV003927950	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2023-04-01	no assertion criteria provided	clinical testing