ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) (rs387907236)

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Total submissions: 7
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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
The Molecular Genetic Diagnosis Center, 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
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

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