ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr)

gnomAD frequency: 0.00002  dbSNP: rs796051987
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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 RCV001361105 SCV001557069 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-08-30 criteria provided, single submitter clinical testing 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. 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 MCCC1 protein function. ClinVar contains an entry for this variant (Variation ID: 203801). This missense change has been observed in individuals with clinical features of 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 31730530; Invitae). This variant is present in population databases (rs796051987, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 54 of the MCCC1 protein (p.Ile54Thr).
Natera, Inc. RCV001361105 SCV002079127 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-05-26 no assertion criteria provided clinical testing

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