Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000167544 | SCV000775147 | pathogenic | 3-methylglutaconic aciduria, type VIIB | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 268 of the CLPB protein (p.Thr268Met). This variant is present in population databases (rs200032855, gnomAD 0.002%). This missense change has been observed in individuals with 3-methylglutaconic aciduria (PMID: 25597511, 28687938). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 187787). 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. Experimental studies have shown that this missense change affects CLPB function (PMID: 32573439). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000167544 | SCV000218402 | pathogenic | 3-methylglutaconic aciduria, type VIIB | 2015-02-05 | no assertion criteria provided | literature only | |
Gene |
RCV000167544 | SCV000328960 | not provided | 3-methylglutaconic aciduria, type VIIB | no assertion provided | literature only | ||
Genome |
RCV000167544 | SCV001749630 | not provided | 3-methylglutaconic aciduria, type VIIB | no assertion provided | phenotyping only | Variant interpreted as Likely pathogenic and reported on 03-05-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |