ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.871G>C (p.Val291Leu) (rs1553876590)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519528 SCV000619932 likely pathogenic not provided 2017-08-14 criteria provided, single submitter clinical testing The V291L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V291L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V291L variant occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, this variant is located within a region of the OPA1 gene where the majority of other missense variants published to be associated with optic atrophy type 1 have been reported (Pesch et al. 2001), and missense variants in nearby residues (R290Q, P289L) have been reported in patients with optic atrophy type 1 in the literature and at GeneDx (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, we interpret the V291L variant as likely pathogenic; however, the possibility that it is benign cannot be excluded.
GenomeConnect, ClinGen RCV000709838 SCV000840168 not provided Dominant hereditary optic atrophy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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