ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)

gnomAD frequency: 0.00001  dbSNP: rs567785578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001359574 SCV001555449 uncertain significance 3-methylglutaconic aciduria, type VIIB 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 77 of the CLPB protein (p.Arg77Ser). This variant is present in population databases (rs567785578, gnomAD 0.003%). 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: 1051521). 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 tolerated. 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.
GeneDx RCV002285477 SCV002575368 uncertain significance not provided 2022-03-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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