ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)

gnomAD frequency: 0.00003  dbSNP: rs767326357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687191 SCV000814744 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-08-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 502 of the MCCC2 protein (p.Glu502Gln). This variant is present in population databases (rs767326357, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 567183). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MCCC2 protein function. 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.
Natera, Inc. RCV001271410 SCV001452536 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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