ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.472G>A (p.Ala158Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985157 SCV004801458 likely pathogenic Mitochondrial DNA depletion syndrome 8a 2018-10-08 criteria provided, single submitter clinical testing The RRM2B c.472G>A p.(Ala158Thr) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. Multiple lines of computational evidence suggest the variant may impact the gene or gene product. This variant was identified in trans with a pathogenic variant in the proband with a phenotype consistent with mitochondrial DNA depletion syndrome 8A. Based on the available evidence the c.472G>A p.(Ala158Thr) variant is classified as likely pathogenic for mitochondrial DNA depletion syndrome 8A.

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