ClinVar Miner

Submissions for variant NM_130831.3(OPA1):c.527_528del (p.Lys176fs) (rs794727804)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000517030 SCV000231748 pathogenic not provided 2016-06-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517030 SCV000614389 pathogenic not provided 2019-09-30 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.
GeneDx RCV000517030 SCV000709894 pathogenic not provided 2018-01-16 criteria provided, single submitter clinical testing The c.635_636delAA variant has been published multiple times in patients with optic neuropathy including an individual who also had hearing loss (Toomes et al. 2001; Leruez et al. 2013; de Catro-Mirio M et al. 2016). The c.635_636delAA variant is observed in 1/15280 (0.007%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016). The c.635_636delAA variant causes a frameshift starting with codon Lysine 212, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Lys212ArgfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic.
Ambry Genetics RCV000623100 SCV000742956 pathogenic Inborn genetic diseases 2017-10-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000517030 SCV001250173 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000517030 SCV001447329 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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