ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)

dbSNP: rs281865174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857425 SCV002240808 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1293*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 15024725). ClinVar contains an entry for this variant (Variation ID: 99902). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001250619 SCV004211189 pathogenic Leber congenital amaurosis 8 2023-06-03 criteria provided, single submitter clinical testing
Retina International RCV000086348 SCV000118494 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250619 SCV001425489 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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