ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.4006-1G>T

dbSNP: rs752804194
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390944 SCV001592848 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects an acceptor splice site in intron 11 of the CRB1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (no rsID available, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with autosomal recessive inherited retinal dystrophy (PMID: 20683928, 24512366). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1076902). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Fulgent Genetics, Fulgent Genetics RCV002499822 SCV002809912 pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-03-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446739 SCV004172615 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446740 SCV004172616 pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446738 SCV004172617 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446739 SCV004211139 pathogenic Leber congenital amaurosis 8 2023-09-09 criteria provided, single submitter clinical testing

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