ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)

gnomAD frequency: 0.00004  dbSNP: rs752866557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378263 SCV001575798 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 173 of the MCCC2 protein (p.Ser173Leu). This variant is present in population databases (rs752866557, gnomAD 0.006%). This missense change has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 11181649, 22642865). ClinVar contains an entry for this variant (Variation ID: 203803). 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%. Experimental studies have shown that this missense change affects MCCC2 function (PMID: 11181649). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001378263 SCV002811400 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-03-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001378263 SCV004194347 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-09-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001378263 SCV002084291 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-17 no assertion criteria provided clinical testing

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