Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV003329215 | SCV004036004 | uncertain significance | Mitochondrial disease | 2023-05-04 | criteria provided, single submitter | clinical testing | The HIBCH c.991C>T (p.Arg331Trp) missense variant has been previously identified in trans with a likely pathogenic variant in an individual with Leigh syndrome (PMID: 35094435). The variant is not observed at a significant frequency in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.991C>T (p.Arg331Trp) variant is classified as a variant of uncertain significance for primary mitochondrial disorder. |