Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691349 | SCV000819125 | uncertain significance | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2021-08-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 399 of the HADHA protein (p.Arg399Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs200715496, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with HADHA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Mayo Clinic Laboratories, |
RCV001508066 | SCV001713972 | uncertain significance | not provided | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276343 | SCV001462515 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |