ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.14701C>T

dbSNP: rs1569484669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756362 SCV000884152 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing This variant affects the MT-TE gene, which encodes the mitochondrial tRNA for glutamic acid, and has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is also absent from population databases such as MITOMAP. This variant disrupts a weakly conserved nucleotide, and several primate species, including the gorilla, gibbon, and rhesus monkey, have a thymine at this position, suggesting this variant is evolutionary tolerated. However, based on the available information, the clinical significance of the m.14701C>T variant cannot be determined with certainty. Pathogenic variants in MT-TE have been associated with mitochondrial disorders.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198151 SCV001368994 uncertain significance See cases 2019-09-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV001523793 SCV001450724 likely pathogenic Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 2020-12-01 no assertion criteria provided clinical testing

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