ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp)

dbSNP: rs118204021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003398413 SCV004103622 likely pathogenic L2HGDH-related condition 2024-01-30 criteria provided, single submitter clinical testing The L2HGDH c.164G>A variant is predicted to result in the amino acid substitution p.Gly55Asp. This variant was reported in the homozygous state in four individuals from three families; all individuals had biochemically confirmed L-2-Hydroxyglutaric aciduria (Topcu et al. 2004. PubMed ID: 15385440). It was also reported in the compound heterozygous state with a pathogenic frameshift variant in two affected relatives (Sass et al. 2008. PubMed ID: 18415700). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.
OMIM RCV000001677 SCV000021833 pathogenic L-2-hydroxyglutaric aciduria 2004-11-15 no assertion criteria provided literature only

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