ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.559G>A (p.Gly187Ser) (rs387906755)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196605 SCV000251184 pathogenic not provided 2014-06-30 criteria provided, single submitter clinical testing p.Gly187Ser (GGT>AGT): c.559 G>A in exon 5 of the AUH gene (NM_001698.2)The G187S missense mutation in the AUH gene has been reported previously in association with 3-methylglutaconic aciduria type 1 who was compound heterozygous for G187S and another mutation in the AUH gene (Wortmann et al., 2010). G187S is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species. Therefore, we interpret G187S to be a pathogenic mutation. The variant is found in MITONUC-MITOP panel(s).
OMIM RCV000022982 SCV000044273 pathogenic 3-Methylglutaconic aciduria type 1 2010-09-21 no assertion criteria provided literature only

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