ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)

dbSNP: rs1450635782
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075199 SCV001240812 likely pathogenic Retinal dystrophy 2018-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862600 SCV002287982 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-07-10 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) performed at Invitae indicates that this missense variant is expected to disrupt CRB1 protein function. ClinVar contains an entry for this variant (Variation ID: 866855). This missense change has been observed in individuals with autosomal recessive CRB1-related conditions (PMID: 12700176; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 1218 of the CRB1 protein (p.Cys1218Phe). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003455406 SCV004180174 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455407 SCV004180175 likely pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455405 SCV004180176 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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