ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)

gnomAD frequency: 0.00010  dbSNP: rs146762466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694608 SCV000823060 uncertain significance 3-methylglutaconic aciduria, type VIIB 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 280 of the CLPB protein (p.Arg280Gly). This variant is present in population databases (rs146762466, gnomAD 0.02%). 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: 573047). 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.
Fulgent Genetics, Fulgent Genetics RCV002507207 SCV002815113 uncertain significance 3-methylglutaconic aciduria, type VIIB; Neutropenia, severe congenital, 9, autosomal dominant; 3-methylglutaconic aciduria, type VIIA 2022-05-16 criteria provided, single submitter clinical testing

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