ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)

dbSNP: rs372918770
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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 RCV001034974 SCV001198278 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1084 of the CEP290 protein (p.Arg1084Trp). This variant is present in population databases (rs372918770, 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: 834317). 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: "Probably Damaging"; 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 RCV002481847 SCV002787019 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279544 SCV001466641 uncertain significance Leber congenital amaurosis 2020-08-15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004536059 SCV004711870 uncertain significance CEP290-related disorder 2023-11-09 no assertion criteria provided clinical testing The CEP290 c.3250C>T variant is predicted to result in the amino acid substitution p.Arg1084Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-88487606-G-A). 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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