ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)

dbSNP: rs878853364
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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 RCV001390795 SCV001592642 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-06-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu538Profs*14) 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 premature translational stop signal has been observed in individual(s) with early-onset retinal disease and Leber congenital amaurosis (PMID: 27208204). ClinVar contains an entry for this variant (Variation ID: 236470). For these reasons, this variant has been classified as Pathogenic.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225570 SCV000282576 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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