Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000258939 | SCV004294124 | uncertain significance | 3-methylglutaconic aciduria, type VIIB | 2022-11-08 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 279605). This missense change has been observed in individual(s) with CLPB-related conditions (PMID: 26916670). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 269 of the CLPB protein (p.Ala269Thr). |
Gene |
RCV000258939 | SCV000328961 | not provided | 3-methylglutaconic aciduria, type VIIB | no assertion provided | literature only |