ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys)

dbSNP: rs116347915
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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 RCV001247191 SCV001420598 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 365 of the CRB1 protein (p.Arg365Cys). This variant is present in population databases (rs116347915, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 971419). 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 not 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.
Dept Of Ophthalmology, Nagoya University RCV003887970 SCV004704997 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004034888 SCV004852063 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.1093C>T (p.R365C) alteration is located in exon 5 (coding exon 5) of the CRB1 gene. This alteration results from a C to T substitution at nucleotide position 1093, causing the arginine (R) at amino acid position 365 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691397 SCV005187133 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001836244 SCV002090130 uncertain significance Leber congenital amaurosis 2020-01-18 no assertion criteria provided clinical testing

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