ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln)

gnomAD frequency: 0.00002  dbSNP: rs773459272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324205 SCV001515149 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2112 of the CEP290 protein (p.Arg2112Gln). This variant is present in population databases (rs773459272, 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: 1024069). 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. 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.
Natera, Inc. RCV001830988 SCV002091844 uncertain significance Leber congenital amaurosis 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004545204 SCV004792388 uncertain significance CEP290-related disorder 2023-11-27 no assertion criteria provided clinical testing The CEP290 c.6335G>A variant is predicted to result in the amino acid substitution p.Arg2112Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of South Asian 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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