ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)

gnomAD frequency: 0.00002  dbSNP: rs777039470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228053 SCV001400437 uncertain significance 3-methylglutaconic aciduria, type VIIB 2022-08-16 criteria provided, single submitter clinical testing 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: 955414). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. This variant is present in population databases (rs777039470, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 100 of the CLPB protein (p.Gly100Ala). 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.

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