ClinVar Miner

Submissions for variant NC_000001.10:g.(?_197407491)_(197411316_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002035173 SCV002110843 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CRB1 protein in which other variant(s) (p.Gly1288Ser) have been determined to be pathogenic (PMID: 31630094, 33342761). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has been observed in individual(s) with clinical features of CRB1-related conditions (Invitae). This variant results in the deletion of exon 10 and part of exon 11 (c.3750-186_3899del) of the CRB1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521).

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