ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser)

gnomAD frequency: 0.00010  dbSNP: rs201745589
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246014 SCV001419342 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-09-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 603 of the MCCC1 protein (p.Asn603Ser). This variant is present in population databases (rs201745589, gnomAD 0.02%). 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: 970442). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MCCC1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003166545 SCV003881209 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.1808A>G (p.N603S) alteration is located in exon 16 (coding exon 16) of the MCCC1 gene. This alteration results from a A to G substitution at nucleotide position 1808, causing the asparagine (N) at amino acid position 603 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001246014 SCV002079085 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-04-23 no assertion criteria provided clinical testing

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.