ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)

gnomAD frequency: 0.00006  dbSNP: rs146689034
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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 RCV001871590 SCV002163578 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 456 of the MCCC1 protein (p.Arg456His). This variant is present in population databases (rs146689034, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 991787). 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.
Natera, Inc. RCV001280056 SCV001467203 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-23 no assertion criteria provided clinical testing

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