ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.18del (p.Asn7fs)

dbSNP: rs2125193922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376225 SCV001573296 likely pathogenic Retinitis pigmentosa 12 2021-04-08 criteria provided, single submitter research The CRB1 c.18del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003771220 SCV004594411 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-05-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn7Thrfs*16) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1065655). This variant has not been reported in the literature in individuals affected with CRB1-related conditions.

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