ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)

gnomAD frequency: 0.00002  dbSNP: rs761480737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541729 SCV002956937 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-04-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 570 of the MCCC1 protein (p.His570Arg). This variant is present in population databases (rs761480737, gnomAD 0.02%). 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: 991783). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002541729 SCV003810801 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2019-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280052 SCV001467199 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-10-08 no assertion criteria provided clinical testing

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