ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)

gnomAD frequency: 0.00003  dbSNP: rs755190312
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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 RCV003588168 SCV004284875 uncertain significance 3-methylglutaconic aciduria, type VIIB 2022-12-20 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with CLPB-related conditions. This variant is present in population databases (rs755190312, gnomAD 0.008%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 115 of the CLPB protein (p.Met115Leu).

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