ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)

gnomAD frequency: 0.00008  dbSNP: rs757356455
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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 RCV001320214 SCV001510990 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1448 of the CEP290 protein (p.Pro1448Arg). This variant is present in population databases (rs757356455, gnomAD 0.02%). 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: 1020611). 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 RCV002504497 SCV002814976 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-08-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835603 SCV002094227 uncertain significance Leber congenital amaurosis 2020-08-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004528463 SCV004108410 uncertain significance CEP290-related disorder 2024-08-20 no assertion criteria provided clinical testing The CEP290 c.4343C>G variant is predicted to result in the amino acid substitution p.Pro1448Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) 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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