ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) (rs200243596)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000390873 SCV000442619 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000489535 SCV000577550 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing The S200F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S200F variant is observed in 8/66718 alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The S200F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000765718 SCV000897081 uncertain significance Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Autosomal dominant optic atrophy plus syndrome; Dominant hereditary optic atrophy; Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 2018-10-31 criteria provided, single submitter clinical testing

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