ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)

gnomAD frequency: 0.00001  dbSNP: rs767575019
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174945 SCV000226351 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000554324 SCV000644146 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 481 of the MCCC2 protein (p.Val481Met). This variant is present in population databases (rs767575019, gnomAD 0.1%). This missense change has been observed in individual(s) with positive newborn screening or affected with 3MCC deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 194556). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000554324 SCV003810820 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-07-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000554324 SCV004194322 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271409 SCV001452535 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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