ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) (rs61749423)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408512 SCV000281841 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085458 SCV000490370 pathogenic not provided 2018-09-28 criteria provided, single submitter clinical testing The R681X nonsense variant in the ABCA4 gene has previously been reported in association with Stargardt disease and cone-rod dystrophy (Maugeri et al., 1999; Jaakson et al., 2003; Cideciyan et al., 2009) and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.
Blueprint Genetics RCV001073628 SCV001239179 pathogenic Retinal dystrophy 2019-07-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085458 SCV001245781 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
Retina International RCV000085458 SCV000117595 not provided not provided no assertion provided not provided
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000210310 SCV000259074 likely pathogenic Bull's eye maculopathy 2015-01-19 no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504983 SCV000598948 pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research

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