ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)

gnomAD frequency: 0.00003  dbSNP: rs200032855
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Total submissions: 4
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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
GeneReviews RCV000167544 SCV000328960 not provided 3-methylglutaconic aciduria, type VIIB no assertion provided literature only
GenomeConnect - Invitae Patient Insights Network 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.

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