Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV001169950 | SCV001251784 | uncertain significance | 3-methylglutaconic aciduria, type VIIB | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001169950 | SCV003507222 | uncertain significance | 3-methylglutaconic aciduria, type VIIB | 2023-03-25 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 915353). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. This variant is present in population databases (rs770073084, gnomAD 0.005%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 484 of the CLPB protein (p.Ile484Thr). |