ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp)

dbSNP: rs1745481314
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 RCV002044291 SCV002116284 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 145 of the MCCC2 protein (p.Tyr145Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1348391). 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 expected to disrupt MCCC2 protein function. 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 RCV004641705 SCV005132492 uncertain significance Inborn genetic diseases 2024-05-31 criteria provided, single submitter clinical testing The c.433T>G (p.Y145D) alteration is located in exon 5 (coding exon 5) of the MCCC2 gene. This alteration results from a T to G substitution at nucleotide position 433, causing the tyrosine (Y) at amino acid position 145 to be replaced by an aspartic acid (D). 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.