ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2129-1G>C

dbSNP: rs1664642051
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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 RCV001203808 SCV001374985 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-12-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the CRB1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with retinitis pigmentosa in a family (PMID: 27670293). Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.

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