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

Total submissions: 7

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