ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)

dbSNP: rs753224594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770299 SCV004606112 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln269*) 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 variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 973924). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250635 SCV001425506 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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