Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002624181 | SCV003513638 | uncertain significance | L-2-hydroxyglutaric aciduria | 2022-07-08 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. This variant is present in population databases (rs562977569, gnomAD 0.03%). This sequence change falls in intron 1 of the L2HGDH gene. It does not directly change the encoded amino acid sequence of the L2HGDH protein. |