Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000258943 | SCV001409746 | uncertain significance | 3-methylglutaconic aciduria, type VIIB | 2022-11-22 | criteria provided, single submitter | clinical testing | 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. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 279606). This missense change has been observed in individuals with 3-methylglutaconic aciduria (PMID: 25597510, 26916670). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs777313457, gnomAD 0.004%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 272 of the CLPB protein (p.Tyr272Cys). |
| Gene |
RCV000258943 | SCV000328962 | not provided | 3-methylglutaconic aciduria, type VIIB | no assertion provided | literature only |