ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1660del (p.Val554fs)

dbSNP: rs1664313783
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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 RCV001924961 SCV002156958 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-06-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1384992). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. This sequence change creates a premature translational stop signal (p.Val554Cysfs*19) 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 RCV004571525 SCV005058564 pathogenic Leber congenital amaurosis 8 2023-12-17 criteria provided, single submitter clinical testing

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