ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) (rs61750654)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085820 SCV000490385 pathogenic not provided 2018-10-11 criteria provided, single submitter clinical testing The R2149X nonsense variant in the ABCA4 gene has been reported in association with Stargardt disease (Lewis et al, 1999; Zernant et al, 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we consider this variant to be pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414922 SCV000492950 pathogenic Visual loss; Blindness; Macular degeneration 2014-11-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085820 SCV000856884 pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000505094 SCV001241508 pathogenic Retinal dystrophy 2019-08-14 criteria provided, single submitter clinical testing
Retina International RCV000085820 SCV000117963 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132593 SCV000172539 pathogenic Stargardt disease 1 no assertion criteria provided not provided Converted during submission to Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505094 SCV000599017 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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