ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.98T>G (p.Met33Arg) (rs751610198)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520587 SCV000618435 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing The M33R variant in the CAD gene has been reported in the homozygous state in multiple individualswith seizures, developmental delay, anemia with anisopoikilocytosis and brain atrophy from twounrelated families of Serbian Roma origin (Koch et al., 2017). The M33R variant is not observed inlarge population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome VariantServer). The M33R variant is a non-conservative amino acid substitution, which is likely to impactsecondary protein structure as these residues differ in polarity, charge, size and/or other properties.This substitution occurs at a position that is conserved across species and in silico analysis predicts thisvariant is probably damaging to the protein structure/function. We interpret M33R as a likelypathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000415540 SCV000680160 pathogenic Epileptic encephalopathy, early infantile, 50 2017-12-09 criteria provided, single submitter clinical testing
OMIM RCV000415540 SCV000493912 pathogenic Epileptic encephalopathy, early infantile, 50 2017-07-20 no assertion criteria provided literature only

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