ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser)

dbSNP: rs150327768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542781 SCV000644148 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-08-09 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 520 of the MCCC2 protein (p.Tyr520Ser). This variant is present in population databases (rs150327768, gnomAD 0.004%). This missense change has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (PMID: 21071250; Invitae). ClinVar contains an entry for this variant (Variation ID: 467805). 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. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001271411 SCV001452537 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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