ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)

dbSNP: rs1553263218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001865636 SCV002188291 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1181Trpfs*13) 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 individuals with inherited retinal dystrophy (PMID: 18055820, 28041643). This variant is also known as C1181InsG. ClinVar contains an entry for this variant (Variation ID: 438079). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003476199 SCV004211142 pathogenic Leber congenital amaurosis 8 2023-09-07 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504784 SCV000598921 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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