ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003751342 SCV004537415 uncertain significance 3-methylglutaconic aciduria, type VIIB 2024-09-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 674 of the CLPB protein (p.Arg674His). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. 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. 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.
PreventionGenetics, part of Exact Sciences RCV004750929 SCV005354539 uncertain significance CLPB-related disorder 2024-07-26 no assertion criteria provided clinical testing The CLPB c.2021G>A variant is predicted to result in the amino acid substitution p.Arg674His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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