Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202173 | SCV001373278 | uncertain significance | Deficiency of hydroxymethylglutaryl-CoA lyase | 2022-01-27 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 217 of the HMGCL protein (p.Met217Val). This variant is present in population databases (rs767993106, gnomAD 0.0009%). This missense change has been observed in individual(s) with sudden unexpected death (PMID: 28747690). ClinVar contains an entry for this variant (Variation ID: 933871). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |
Natera, |
RCV001833773 | SCV002094157 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-04-21 | no assertion criteria provided | clinical testing |