ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1212+5G>T (rs863224136)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200311 SCV000251998 pathogenic not provided 2013-01-07 criteria provided, single submitter clinical testing c.1212+5 G>T: IVS12+5 G>T in intron 12 of the OPA1 gene (NM_015560.2). The c.1215+5 G>T splice site mutation in the OPA1 gene either damages or destroys the splice donor site in intron 12, according to in-silico splice prediction models, which would be expected to result in abnormal gene splicing. Although this specific mutation has not been reported previously, a different nucleotide substitution at the same position (c.1212+5 G>C) has been reported previously in association with optic atrophy type 1 (Schimpf et al., 2008). The variant is found in OAPEO-MITOP panel(s).

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