My Variant Coach Submits Novel NDUFB11 Variant to ClinVar
Novel Variant in NDUFB11 Submitted to ClinVar
3/12/20261 min read
A novel variant identified through My Variant Coach research has been submitted to ClinVar. The variant occurs in NDUFB11, a gene encoding a subunit of Mitochondrial Complex I Deficiency, the first enzyme of the mitochondrial respiratory chain. Complex I plays a central role in cellular energy production, and pathogenic variants in its subunits have been associated with a range of mitochondrial disorders.
Public variant databases such as ClinVar are essential for advancing genomic interpretation and helping clinicians and researchers recognize previously unreported variants.