ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)

dbSNP: rs761996996
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001376744 SCV001573905 pathogenic Maple syrup urine disease 2023-06-14 criteria provided, single submitter clinical testing 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 BCKDHA protein function. ClinVar contains an entry for this variant (Variation ID: 1065902). This missense change has been observed in individual(s) with maple syrup urine disease (PMID: 31112740, 31980395). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 265 of the BCKDHA protein (p.Arg265Gln). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg265 amino acid residue in BCKDHA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9582350, 22145486). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
GeneDx RCV002265026 SCV002546749 likely pathogenic not provided 2022-01-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31980395, 31112740, 11069910)
Baylor Genetics RCV004570920 SCV004215884 likely pathogenic Maple syrup urine disease type 1A 2024-03-20 criteria provided, single submitter 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.