ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.344C>T (p.Ala115Val) (rs200983556)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503172 SCV000596163 uncertain significance not specified 2016-11-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658983 SCV000780786 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 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.

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