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

Total submissions: 3

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.