Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000854464 | SCV000997499 | uncertain significance | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.9166T>C (YP_003024031.1:p.Phe214Leu) variant in MTATP6 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP3, PP7 |
Center for Neuroscience and Cell Biology, |
RCV000408929 | SCV000484520 | likely pathogenic | Optic neuropathy | 2016-11-21 | no assertion criteria provided | clinical testing | |
Medical Genetics, |
RCV001090137 | SCV001244659 | pathogenic | Mitochondrial disease | 2019-10-01 | no assertion criteria provided | in vitro | Our patient had the variant m.9166T>C, p.Phe214Leu withProximal muscle weakness, exercise intolerance, myalgia, episodic rhabdomyolysis, and hyperlactatemia |