ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)

dbSNP: rs1659650891
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075113 SCV001240724 uncertain significance Retinal dystrophy 2018-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001365938 SCV001562224 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-09-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 266 of the CRB1 protein (p.Cys266Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of CRB1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 866804). 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. 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.
Genome-Nilou Lab RCV003455397 SCV004178853 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455398 SCV004178854 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455396 SCV004178855 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031187 SCV004852075 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.796T>A (p.C266S) alteration is located in exon 3 (coding exon 3) of the CRB1 gene. This alteration results from a T to A substitution at nucleotide position 796, causing the cysteine (C) at amino acid position 266 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833693 SCV002090118 uncertain significance Leber congenital amaurosis 2021-02-06 no assertion criteria provided clinical testing

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