Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691839 | SCV000819635 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575404 | SCV001802391 | uncertain significance | not provided | 2020-09-23 | criteria provided, single submitter | clinical testing | Identified heterozygous in one infant with 31% residual activity and no second variant described (Hoffmnn et al., 2012).; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Computational modeling predicts L337F (L297F) lies near the catalytic center possibly affecting substrate binding (Hoffmann et al., 2012); This variant is associated with the following publications: (PMID: 21932095, 25242572) |