ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)

dbSNP: rs865990202
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414150 SCV000490369 pathogenic not provided 2016-07-19 criteria provided, single submitter clinical testing The W663X pathogenic variant has been reported multiple times in individuals with Stargardt disease and retinal dystrophy (Rivera et al., 2000; Burke et al., 2012; Tiwari et al., 2016). The G1203E variant has been reported in association with autosomal recessive code-rod dystrophy, however specific clinical and segregation information was not provided (Kitiratschky et al., 2008; Zlotogora et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
CeGaT Center for Human Genetics Tuebingen RCV000414150 SCV001245783 pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000414150 SCV001447307 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV001353030 SCV001548143 likely pathogenic Retinitis pigmentosa 19 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV000414150 SCV001590409 pathogenic not provided 2021-01-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with Stargradt disease (PMID: 10958763, 28559085). ClinVar contains an entry for this variant (Variation ID: 372289). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp663*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318).

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