ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs)

dbSNP: rs1665066272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246724 SCV001420101 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-03-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CRB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1048Lysfs*26) 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).
Baylor Genetics RCV003473832 SCV004211200 likely pathogenic Leber congenital amaurosis 8 2023-04-22 criteria provided, single submitter clinical testing

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