ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003065800 SCV003458263 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 594 of the MCCC1 protein (p.Asp594Glu). This variant is present in population databases (rs377249142, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. 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. 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.
Baylor Genetics RCV003065800 SCV003835327 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898748 SCV004716060 uncertain significance MCCC1-related disorder 2024-01-30 no assertion criteria provided clinical testing The MCCC1 c.1782C>G variant is predicted to result in the amino acid substitution p.Asp594Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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