ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) (rs863224906)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000199194 SCV000255432 likely pathogenic Autosomal dominant optic atrophy classic form 2012-10-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756450 SCV000884269 pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The OPA1 c.2296C>T; p.Arg766Ter variant (rs863224906; ClinVar Variation ID: 216979) has been previously identified in an individual with a personal and family consistent with dominantly inherited optic atrophy (Delettre 2001). Located in exon 23 (of 31) is variant is expected to result in a truncated or absent protein product. Additionally, this variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database). As loss of function is an established disease mechanism in OPA1-mediated optic atrophy, based on the available information, this variant is considered pathogenic. Pathogenic variants in OPA1 are associated with autosomal dominant optic atrophy 1 (MIM: 165500) and autosomal recessive Behr syndrome (MIM: 210000).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756450 SCV001246484 pathogenic not provided 2017-12-01 criteria provided, single submitter clinical testing

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