ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr)

gnomAD frequency: 0.00003  dbSNP: rs1159836808
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513597 SCV000608657 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857318 SCV002214531 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 2466 of the CEP290 protein (p.Phe2466Tyr). This variant is present in population databases (no rsID available, 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: 444301). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV003159652 SCV003884246 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.7397T>A (p.F2466Y) alteration is located in exon 54 (coding exon 53) of the CEP290 gene. This alteration results from a T to A substitution at nucleotide position 7397, causing the phenylalanine (F) at amino acid position 2466 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010459 SCV005630334 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-03-13 criteria provided, single submitter clinical testing

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