ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1712G>A (p.Arg571His) (rs140606054)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723883 SCV000203170 uncertain significance not provided 2014-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000723883 SCV000617245 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing The R571H variant in the OPA1 gene has been reported previously in association with autosomal dominant optic atrophy (Delettre et al., 2001; Thiselton et al., 2002). The R571H variant is observed in 10/126536 (0.008%) alleles in large population cohorts (Lek et al., 2016). The R571H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R571H as a variant of uncertain significance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723883 SCV001500772 likely pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709922 SCV000840267 not provided 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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