Total submissions: 2
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. |
Prevention |
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. |