ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002982536 SCV003288555 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 682 of the MCCC1 protein (p.Met682Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs200415465, ExAC 0.03%). 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: "Probably 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.
Ambry Genetics RCV002967896 SCV003728903 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.2046G>C (p.M682I) alteration is located in exon 18 (coding exon 18) of the MCCC1 gene. This alteration results from a G to C substitution at nucleotide position 2046, causing the methionine (M) at amino acid position 682 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.