ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.381A>G (p.Ile127Met) (rs146227896)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487826 SCV000575581 uncertain significance not provided 2016-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000200381 SCV000251186 uncertain significance not specified 2017-04-19 criteria provided, single submitter clinical testing p.Ile127Met (ATA>ATG):c.381 A>G in exon 3 of the AUH gene (NM_001698.2). The I127M missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative in that both Isoleucine and Methionine are uncharged, non-polar amino acids. This change occurs at a position in the AUH protein that is conserved in mammals. Multiple in-silico analysis models predict that I127M is damaging to the AUH protein. Therefore, based on the currently available information, it is unclear whether I127M is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000275240 SCV000480873 uncertain significance 3-Methylglutaconic aciduria type 1 2016-06-14 criteria provided, single submitter clinical testing

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