ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)

gnomAD frequency: 0.00003  dbSNP: rs1409490389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002035427 SCV002231210 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu751*) 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). This variant is present in population databases (no rsID available, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 17964524). ClinVar contains an entry for this variant (Variation ID: 1451950).
Baylor Genetics RCV003475209 SCV004211194 likely pathogenic Leber congenital amaurosis 8 2023-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006308 SCV005636273 likely pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-06-14 criteria provided, single submitter clinical testing

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