ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.991A>T (p.Lys331Ter) (rs387906757)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000022984 SCV000756677 uncertain significance 3-Methylglutaconic aciduria type 1 2018-01-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the AUH gene (p.Lys331*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 9 amino acids of the AUH protein. This variant is present in population databases (rs387906757, ExAC 0.01%). This variant has been reported as homozygous in an individual affected with 3-methylglutaconic aciduria type I (PMID: 20855850). ClinVar contains an entry for this variant (Variation ID: 30081). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000022984 SCV000044275 pathogenic 3-Methylglutaconic aciduria type 1 2010-09-21 no assertion criteria provided literature only

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