ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)

dbSNP: rs1711513392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001288317 SCV001475335 likely pathogenic not provided 2023-07-05 criteria provided, single submitter clinical testing This variant has been found de novo, with paternity confirmed, in one individual with clinical features of optic atrophy. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging.
PreventionGenetics, part of Exact Sciences RCV003399056 SCV004119435 likely pathogenic OPA1-related condition 2022-09-15 criteria provided, single submitter clinical testing The OPA1 c.1886T>C variant is predicted to result in the amino acid substitution p.Leu629Pro. This variant has been reported as arising de novo in an individual who was diagnosed with optic atrophy at age 20 (reported as c.1721T>C [p.Leu574Pro] using alternate transcript NM_015560.2 in Baris et al. 2003. PubMed ID: 14961560). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Given the evidence, we interpret c.1886T>C (p.Leu629Pro) as likely pathogenic.

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