ClinVar Miner

Submissions for variant NM_004046.6(ATP5F1A):c.326T>C (p.Leu109Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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.

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