Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003129529 | SCV003806187 | likely pathogenic | not provided | 2022-08-18 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24321868) |
Invitae | RCV003495317 | SCV004297091 | pathogenic | L-2-hydroxyglutaric aciduria | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro177Hisfs*6) in the L2HGDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). This variant is present in population databases (rs766538932, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with L-2-hydroxyglutaric aciduria (PMID: 16134148). For these reasons, this variant has been classified as Pathogenic. |