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: 4
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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].
Labcorp Genetics (formerly Invitae), Labcorp 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.
Ambry Genetics RCV004639582 SCV005132487 uncertain significance Inborn genetic diseases 2024-03-31 criteria provided, single submitter clinical testing The c.898A>G (p.K300E) alteration is located in exon 9 (coding exon 9) of the MCCC1 gene. This alteration results from a A to G substitution at nucleotide position 898, causing the lysine (K) at amino acid position 300 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
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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