ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)

gnomAD frequency: 0.00002  dbSNP: rs776216960
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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 RCV001060935 SCV001225655 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 2390 of the CEP290 protein (p.Thr2390Arg). This variant is present in population databases (rs776216960, gnomAD 0.03%). 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: 855629). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002489666 SCV002789124 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827384 SCV002091815 uncertain significance Leber congenital amaurosis 2020-08-20 no assertion criteria provided clinical testing

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