ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.790G>T (p.Val264Leu)

dbSNP: rs1242440672
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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 RCV000688427 SCV000816037 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 264 of the CEP290 protein (p.Val264Leu). This variant is not present in population databases (gnomAD no frequency). 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: 568160). 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 RCV002485617 SCV002788131 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-04-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830495 SCV002094347 uncertain significance Leber congenital amaurosis 2020-02-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733002 SCV005355408 uncertain significance CEP290-related disorder 2024-03-07 no assertion criteria provided clinical testing The CEP290 c.790G>T variant is predicted to result in the amino acid substitution p.Val264Leu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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