Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
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 |