ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)

gnomAD frequency: 0.00235  dbSNP: rs149504235
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000145790 SCV000429410 uncertain significance D-2-hydroxyglutaric aciduria 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000513008 SCV000609039 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing D2HGDH: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000145790 SCV001113711 benign D-2-hydroxyglutaric aciduria 1 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145790 SCV000594302 likely benign D-2-hydroxyglutaric aciduria 1 2015-11-19 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945167 SCV004771504 likely benign D2HGDH-related disorder 2022-10-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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