ClinVar

Description

Variant summary: MPV17 c.271_273delTTG (p.Leu91del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 2e-05 in 251476 control chromosomes. c.271_273delTTG has been reported in the literature in individuals affected with MPV17 related Mitochondrial DNA Depletion Syndrome (example, El-Hattab_2010, El-Hattab_2018, Quaio_2020, Shimura_2020). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic and one laboratory classified the variant as uncertain significance citing a classification dated earlier than the most recent evidence in the literature cited above. Based on the evidence outlined above, the variant was classified as pathogenic.