ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.853+2T>C (rs1559364994)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691213 SCV000818961 likely pathogenic D-2-hydroxyglutaric aciduria 1 2018-01-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the D2HGDH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with a pathogenic D2HGDH variant in an individual affected with D-2-hydroxyglutaric aciduria (PMID: 20020533). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in D2HGDH are known to be pathogenic (PMID: 16081310, 20020533, 21384162). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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