ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) (rs146408017)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498418 SCV000590383 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing The V173I variant in the D2HGDH gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V173I variant is observed in 39/8506 (0.46%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The V173I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret V173I as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765654 SCV000896983 uncertain significance D-2-hydroxyglutaric aciduria 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000498418 SCV001034535 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000765654 SCV001300576 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000765654 SCV001652324 likely benign D-2-hydroxyglutaric aciduria 1 2018-06-06 criteria provided, single submitter clinical testing

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