Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV003329210 | SCV004035994 | uncertain significance | Mitochondrial disease | 2023-02-06 | criteria provided, single submitter | clinical testing | The ATPF51A c.326T>C (p.Leu109Ser) missense variant results in the substitution of leucine at amino acid position 109 with serine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Multiple lines of computational evidence suggest the variant may have a deleterious effect on the gene or gene product. This variant was identified in a de novo state. Based on the available evidence, the c.326T>C (p.Leu109Ser) variant is classified as a variant of uncertain significance for primary mitochondrial disease. |