ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) (rs199826787)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203104 SCV000258200 uncertain significance not specified 2015-02-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379773 SCV000381427 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285366 SCV000381428 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335594 SCV000381429 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401171 SCV000381430 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300690 SCV000381431 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000815427 SCV000955879 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-09-23 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 1585 of the CEP290 protein (p.His1585Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs199826787, ExAC 0.03%). This variant has not been reported in the literature in individuals with CEP290-related disease. ClinVar contains an entry for this variant (Variation ID: 218802). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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