ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)

gnomAD frequency: 0.00001  dbSNP: rs536485763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043233 SCV001206956 uncertain significance 3-methylglutaconic aciduria, type VIIB 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 44 of the CLPB protein (p.Glu44Lys). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 841085). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. This variant is present in population databases (rs536485763, gnomAD 0.1%).

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