ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.15192T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003445293 SCV004171811 uncertain significance Mitochondrial disease 2023-11-17 criteria provided, single submitter clinical testing The m.446T>G variant is not present in publicly available population databases like 1000 Genomes, mtDB, MITOMAP, HelixMTdb and gnomAD v3.1 and our in-house exome database. This variant has neither been published in literature for MT-CYB-related conditions nor reported to the clinical databases like ClinVar or OMIM in any affected individuals. This variant is present in the MitImpact database. In-silico pathogenicity prediction programs like PolyPhen-2, CADD, APOGEE1 etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies.

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