ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)

gnomAD frequency: 0.00001  dbSNP: rs1271816211
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795927 SCV000935408 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-11-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 631 of the CRB1 protein (p.Tyr631Cys). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individuals with CRB1-related conditions (PMID: 27157150, 28341475, 30718709). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 636015). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CRB1 protein function. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001766622 SCV001988963 uncertain significance not provided 2019-11-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30092450, 28341475, 31047448, 27157150, 30718709, 30956116, 32831148)
Baylor Genetics RCV001250596 SCV004211097 likely pathogenic Leber congenital amaurosis 8 2024-03-28 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787575 SCV000926555 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250596 SCV001425464 uncertain significance Leber congenital amaurosis 8 no assertion criteria provided research
Natera, Inc. RCV001830677 SCV002090151 likely pathogenic Leber congenital amaurosis 2020-10-20 no assertion criteria provided clinical testing

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