ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1256G>A (p.Arg419His) (rs199908032)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778606 SCV000914916 uncertain significance D-2-hydroxyglutaric aciduria 1 2018-10-25 criteria provided, single submitter clinical testing The D2HGDH gene is c.1256G>A (p.Arg419His) missense variant has been reported in a single study and is found in one individual with D-2-hydroxyglutaric aciduria in a homozygous state (Kranendijk et al. 2010). The p.Arg419His variant was absent from 210 control alleles and is reported at a frequency of 0.00006 in the European (non-Finnish) population of the Genome Aggregation Database. A functional assay using patient fibroblasts showed that the p.Arg419His variant causes a significant reduction of D-2-HGDH enzyme activity compared to a control (Kranendijk et al. 2010). The evidence for this variant is limited. The p.Arg419His variant is classified as a variant of unknown significance but suspicious for pathogenicity for D-2-hydroxyglutaric aciduria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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