ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1393del (p.Thr465fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322380 SCV001513248 uncertain significance D-2-hydroxyglutaric aciduria 1 2020-05-15 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the D2HGDH gene (p.Thr465Argfs*215). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acids of the D2HGDH protein and extend the protein by an additional 157 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with D2HGDH-related conditions. This variant disrupts a region of the protein in which other variant(s) (p.Ala474Val) have been observed in individuals with D2HGDH-related conditions (Invitae). This suggests that this may be a clinically significant region of the D2HGDH protein. 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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