Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503172 | SCV000596163 | uncertain significance | not specified | 2016-11-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000658983 | SCV000780786 | uncertain significance | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Geisinger Autism and Developmental Medicine Institute, |
RCV000678318 | SCV000804377 | uncertain significance | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 2017-06-12 | criteria provided, single submitter | provider interpretation | This variant was identified in a 10 year old male with autism spectrum disorder, intellectual disability, and dietary selectivity. This variant was maternally inherited and there is no family history of optic atrophy or neurological or mitochondrial dysfunction. Clinical correlation with OPA-related disorders was thought to be poor. The variant is present in the gnomAD South Asian population at 0.068%. Computational prediction models are inconsistent. It has been reported previously in a 5 year old female with optic atrophy, deafness, ataxia, and mild myopathic changes though parental testing was not reported (Santarelli, 2015), and in a 12 year old female with optic atrophy, atixia, and neuropathy (Yu-Wai-Man, 2010). A second, paternally-inherited in-frame deletion, classified as a variant of uncertain signficance, was also identified in the OPA1 gene. |