Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001872461 | SCV002120067 | uncertain significance | L-2-hydroxyglutaric aciduria | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change affects codon 86 of the L2HGDH mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the L2HGDH protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1360289). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |