ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.895A>G (p.Asn299Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337923 SCV004048357 uncertain significance L-2-hydroxyglutaric aciduria criteria provided, single submitter clinical testing The missense variant c.895A>G (p.Asn299Asp) in L2HGDH gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Asparagine at position 299 is changed to a Aspartic acid changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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