ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)

gnomAD frequency: 0.00022  dbSNP: rs772603458
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000307481 SCV000345495 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001368383 SCV001564777 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2186 of the CEP290 protein (p.His2186Gln). This variant is present in population databases (rs772603458, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 290846). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000307481 SCV005408371 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing BP4
Natera, Inc. RCV001828277 SCV002091838 uncertain significance Leber congenital amaurosis 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004537615 SCV004722133 uncertain significance CEP290-related disorder 2024-07-08 no assertion criteria provided clinical testing The CEP290 c.6558T>G variant is predicted to result in the amino acid substitution p.His2186Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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