ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)

dbSNP: rs745348555
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986492 SCV001135504 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042752 SCV001206453 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly845Serfs*9) 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 (rs745348555, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with CRB1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 801599). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003222187 SCV003916540 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing CRB1: PVS1, PM2
Genome-Nilou Lab RCV003455002 SCV004180060 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455001 SCV004180061 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455002 SCV004211158 pathogenic Leber congenital amaurosis 8 2023-08-14 criteria provided, single submitter clinical testing

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