ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)

gnomAD frequency: 0.00003  dbSNP: rs182830931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002486068 SCV002791012 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-02-25 criteria provided, single submitter clinical testing
Invitae RCV002486068 SCV003460227 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 572 of the MCCC1 protein (p.Gly572Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs182830931, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. RCV001280051 SCV001467198 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-07-30 no assertion criteria provided clinical testing

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