ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)

gnomAD frequency: 0.00001  dbSNP: rs372344202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805730 SCV000945698 uncertain significance 3-methylglutaconic aciduria, type VIIB 2023-08-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CLPB-related conditions. ClinVar contains an entry for this variant (Variation ID: 650560). 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 489 of the CLPB protein (p.Ala489Thr).
GeneDx RCV001772082 SCV001994719 uncertain significance not provided 2019-03-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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