ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.373C>T (p.Arg125Trp) (rs200030276)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000190355 SCV000153771 likely pathogenic 3-Methylglutaconic aciduria type 1 2014-05-25 no assertion criteria provided clinical testing Homozygous missense transition mutation, affects a highly conserved amino acid residue located in a functional domain of the AUH protein. The homozygous c.373C>T change appears to be deleterious using several in-silico prediction tools.

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