ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)

dbSNP: rs62636266
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046839 SCV001210757 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-05-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 99874). This missense change has been observed in individual(s) with CRB1-related conditions (PMID: 17525851, 24265693, 30576320, 32865313). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs62636266, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 681 of the CRB1 protein (p.Cys681Tyr).
CeGaT Center for Human Genetics Tuebingen RCV000086312 SCV001248709 pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000086312 SCV001905546 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453016 SCV004179998 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453015 SCV004179999 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453016 SCV004211182 pathogenic Leber congenital amaurosis 8 2023-06-29 criteria provided, single submitter clinical testing
Retina International RCV000086312 SCV000118458 not provided not provided no assertion provided not provided
Natera, Inc. RCV001831900 SCV002090158 likely pathogenic Leber congenital amaurosis 2020-11-04 no assertion criteria provided clinical testing

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