ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.15215G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003484260 SCV004231895 likely pathogenic MELAS syndrome 2024-01-16 criteria provided, single submitter clinical testing The m.15215G>A variant was found in a 14-year-old boy with stroke-like episodes, intellectual disability and hyperlactic acidemia (HP:0002401, HP:0001249, HP:0003128). The variant NC_012920.1:m.15215G>A (YP_003024038.1:p.Gly157*) in the MT-CYB gene is interpreted as Likely pathogenic according to the applied mitochondrial DNA-specific ACMG/AMP guidelines (PMID: 32906214). This variant meets the following evidence criteria: PVS1 strong: a stop variant, 15215G>A, predicting a gly157* truncation of the protein with loss of 223 amino acids, representing 59% of the C terminus of cytochrome b. PM2 supp: not found in population database (gnomAD, MITOmap) PS2 supp: the variant is de novo, since it was not detected in a blood sample from the mother studied by NGS (identical mitochondrial dna sequence). PM8: Heteroplasmy level among different patient tissues correlates with the clinical phenotype. Muscle Biopsy = 92%, Urinary Epithelial Cells = 87% and Blood = 51%.

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