ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)

dbSNP: rs1571522690
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986487 SCV001135499 uncertain significance Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001759677 SCV001985385 uncertain significance not provided 2018-12-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29053603, 17724218)
Genome-Nilou Lab RCV003454999 SCV004179901 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455000 SCV004179902 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454998 SCV004179904 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586998 SCV005076279 uncertain significance not specified 2024-04-30 criteria provided, single submitter clinical testing Variant summary: CRB1 c.1313G>A (p.Cys438Tyr) results in a non-conservative amino acid change in 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 251412 control chromosomes. c.1313G>A has been reported in the literature in individuals affected with Retinal Dystrophy and related conditions (Di Lorio_2017, Simonelli_2017, Karali_2022). These data indicate that the variant may be associated with disease. 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: 29053603, 36460718, 17724218).ClinVar contains an entry for this variant (Variation ID: 801595). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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