ClinVar Miner

Submissions for variant NC_012920.1(MT-ND5):m.13345G>A

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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 RCV003482204 SCV004227987 uncertain significance Mitochondrial disease 2023-12-27 criteria provided, single submitter clinical testing The m.13345G>A variant is not present in publicly available population databases like 1000 Genomes, mtDB and our in-house exome database. The variant is present in MITOMAP, HelixMtdb and gnomAD v3.1 databases at low frequencies. This variant has been previously observed in individuals affected with LHON [1, 2] and reported to the MITOMAP database. It has not been reported to the ClinVar or OMIM databases in any affected individuals. This variant is present in the MitImpact database. In-silico pathogenicity prediction programs like SIFT4G, PolyPhen-2, CADD, APOGEE1, APOGEE2, Varsome etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies.

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