ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)

dbSNP: rs143511261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817389 SCV000957944 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1013*) 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 present in population databases (rs143511261, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with early-onset retinal dystrophy (PMID: 20956273). ClinVar contains an entry for this variant (Variation ID: 660235). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001250612 SCV004211098 pathogenic Leber congenital amaurosis 8 2023-10-27 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250612 SCV001425481 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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