ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)

dbSNP: rs1664325377
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075721 SCV001241349 pathogenic Retinal dystrophy 2019-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862628 SCV002245520 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-09-27 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.Cys591Serfs*29) 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 premature translational stop signal has been observed in individual(s) with inherited retinal dystrophy (PMID: 23362850). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 867150).
Genome-Nilou Lab RCV003455418 SCV004179966 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455419 SCV004179967 pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455417 SCV004179968 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Faculty of Health Sciences, Beirut Arab University RCV001257862 SCV001434709 pathogenic Autosomal recessive retinitis pigmentosa 2013-01-30 no assertion criteria provided literature only

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