ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)

gnomAD frequency: 0.00002  dbSNP: rs753650692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336480 SCV001529877 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2018-02-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001336480 SCV001533788 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 300 of the MCCC1 protein (p.Lys300Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs753650692, ExAC 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001336480 SCV002079106 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-05-07 no assertion criteria provided clinical testing

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