ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.589C>T (p.Arg197Ter) (rs121434636)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000009623 SCV000894481 pathogenic 3-Methylglutaconic aciduria type 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000009623 SCV000822722 pathogenic 3-Methylglutaconic aciduria type 1 2018-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg197*) in the AUH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in two siblings affected with 3-methylglutaconic aciduria and in an independent individual affected with the same disease (PMID: 12434311, 12655555). ClinVar contains an entry for this variant (Variation ID: 9056). Loss-of-function variants in AUH are known to be pathogenic (PMID: 12655555, 20882351). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009623 SCV000029841 pathogenic 3-Methylglutaconic aciduria type 1 2003-04-01 no assertion criteria provided literature only

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