ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.20C>T (p.Ala7Val) (rs863223911)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197239 SCV000251173 likely benign not specified 2014-03-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432743 SCV000511684 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001350300 SCV001544691 uncertain significance 3-Methylglutaconic aciduria type 1 2020-05-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 7 of the AUH protein (p.Ala7Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with AUH-related conditions. ClinVar contains an entry for this variant (Variation ID: 214141). 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.

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