ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)

gnomAD frequency: 0.00003  dbSNP: rs372565248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001312782 SCV001503252 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 1851 of the CEP290 protein (p.Lys1851Ile). This variant is present in population databases (rs372565248, gnomAD 0.007%). 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: 1014096). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002504476 SCV002814824 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-04-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830265 SCV002091867 uncertain significance Leber congenital amaurosis 2020-06-02 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733244 SCV005345214 uncertain significance CEP290-related disorder 2024-04-26 no assertion criteria provided clinical testing The CEP290 c.5552A>T variant is predicted to result in the amino acid substitution p.Lys1851Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0069% 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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