ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg) (rs1553878554)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516363 SCV000614374 likely pathogenic not provided 2020-01-16 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Conflicting predictions of the effect on the protein. Located in potentially critical domain of the protein. Statistically associated with disease in a single family.

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