ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)

dbSNP: rs1009552469
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245639 SCV001418940 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-07-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 970125). This missense change has been observed in individual(s) with CRB1-related conditions (PMID: 34884448). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 808 of the CRB1 protein (p.Tyr808Cys).
3billion RCV001810005 SCV002058915 uncertain significance Retinitis pigmentosa 12 2022-01-03 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (3CNET: 0.931, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV003449774 SCV004180046 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449775 SCV004180049 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810005 SCV004180050 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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