ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) (rs398124303)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000081775 SCV000614395 pathogenic not provided 2015-06-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081775 SCV000233132 pathogenic not provided 2015-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000081775 SCV000251992 pathogenic not provided 2012-12-13 criteria provided, single submitter clinical testing p.Lys328Arg (AAG>AGG): c.983 A>G in exon 9 of the OPA1 gene (NM_015560.2)The c.983 A>G mutation in the OPA1 gene has been previously reported in association with autosomal dominant optic atrophy (Baris et al., 2003). This mutation occurs at the second to last nucleotide of exon 9, modifies the consensus splice donor site in intron 9, and causes abnormal gene splicing by RT-PCR analysis (Baris et al., 2003). The variant is found in OAPEO-MITOP,MITO24OPA1 panel(s).
GeneReviews RCV000180653 SCV000256797 pathogenic Dominant hereditary optic atrophy 2015-11-12 no assertion criteria provided literature only

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