ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1431del (p.Ser478fs)

dbSNP: rs1553260321
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine, University of Leeds RCV000656136 SCV000611555 pathogenic Macular dystrophy 2017-10-27 criteria provided, single submitter research
Invitae RCV001057046 SCV001221518 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-09-08 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with macular dystrophy (PMID: 29391521). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 446253). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser478Profs*24) 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).
Genome-Nilou Lab RCV003449466 SCV004179920 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449467 SCV004179921 pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449465 SCV004179922 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003449466 SCV004211176 pathogenic Leber congenital amaurosis 8 2023-07-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275647 SCV001460938 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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