ClinVar Miner

Submissions for variant NM_005035.4(POLRMT):c.881C>T (p.Pro294Leu)

gnomAD frequency: 0.00008  dbSNP: rs566027653
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002226629 SCV002505378 uncertain significance Combined oxidative phosphorylation deficiency 55 2022-04-25 criteria provided, single submitter clinical testing The detected change is reported in the dbSNP database (dbSNP151 as of 04/25/2022) with the designation rs566027653. In gnomAD it is listed with a frequency of 0.01203% (34/282580) (as of April 25, 2022). Bioinformatically, the change is inconsistently classified as "probably disease-causing" (CADDphred 25.2) or as more benign (MutationTaster). Since this is a highly conserved amino acid, the variant may have an influence on the function of the protein. Based on the current state of knowledge, the variant can be classified as a “variant of uncertain clinical significance” (ACMG criteria).

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