ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)

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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 RCV002572372 SCV002932669 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 549 of the MCCC1 protein (p.Tyr549His). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. 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 not expected to disrupt MCCC1 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.
Revvity Omics, Revvity RCV002572372 SCV003810813 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-10-14 criteria provided, single submitter clinical testing

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