ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr)

dbSNP: rs1553249226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701573 SCV005204506 uncertain significance not specified 2024-06-11 criteria provided, single submitter clinical testing Variant summary: CRB1 c.254G>A (p.Cys85Tyr) results in a non-conservative amino acid change located in the EGF-like domain (IPR000742) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251474 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.254G>A has been reported in the literature in a compound heterozygous individual affected with cone-rod dystrophy (Carrs_2017). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 28041643, 36099972). ClinVar contains an entry for this variant (Variation ID: 438075). Based on the evidence outlined above, the variant was classified as uncertain significance.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504692 SCV000598915 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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