ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg)

gnomAD frequency: 0.00001  dbSNP: rs535571590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231931 SCV001404469 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 2264 of the CEP290 protein (p.Lys2264Arg). This variant is present in population databases (rs535571590, gnomAD 0.05%). 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: 958715). 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. RCV001834010 SCV002091829 uncertain significance Leber congenital amaurosis 2020-05-20 no assertion criteria provided clinical testing

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