ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) (rs369775002)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778209 SCV000914375 uncertain significance CRB1-Related Disorders 2018-12-10 criteria provided, single submitter clinical testing The CRB1 c.1183G>T (p.Glu395Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The p.Glu395Ter variant has been reported in one study in which it is found in one individual with Leber congenital amaurosis who also carried a frameshift variant in the CRB1 gene (Carss et al. 2017). Control data are unavailable for the p.Glu395Ter variant which is reported at a frequency of 0.000229 in the African population from the Genome Aggregation Database, however this is based on two alleles in a region of good seqeunce coverage so the variant is presumed to be rare. Based on the evidence and the potential impact of stop-gained variants, the p.Glu395Ter variant is classified as a variant of unknown significance, but suspicious for pathogenicity for CRB1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Blueprint Genetics RCV001074835 SCV001240435 likely pathogenic Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505025 SCV000598908 likely pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research

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