ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)

gnomAD frequency: 0.00001  dbSNP: rs750133436
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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 RCV001880230 SCV002313483 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 70 of the MCCC1 protein (p.Lys70Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs750133436, ExAC 0.006%). 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: 989684). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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. RCV001277566 SCV001464526 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-08-30 no assertion criteria provided clinical testing

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