Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV004586415 | SCV005077773 | uncertain significance | Leber optic atrophy | 2024-04-24 | criteria provided, single submitter | clinical testing | The m.8603T>G variant variant is not present in publicly available population databases like gnomAD v3.1, mtDB and our in-house exome database. The variant is present in MITOMAP and HelixMtdb databases at very low frequencies. This variant has neither been published in literature with MT-ATP6-related conditions nor reported to the ClinVar or OMIM databases, in any affected individuals. This variant is present in the MitImpact database (ID- MI.164). In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, CADD, etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. |