ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)

gnomAD frequency: 0.00001  dbSNP: rs762238709
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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 RCV001243387 SCV001416543 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 2458 of the CEP290 protein (p.Ser2458Gly). This variant is present in population databases (rs762238709, gnomAD 0.004%). 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: 968286). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003145474 SCV003831581 uncertain significance not provided 2019-03-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829029 SCV002091805 uncertain significance Leber congenital amaurosis 2020-11-04 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538508 SCV004115802 uncertain significance CEP290-related disorder 2024-09-06 no assertion criteria provided clinical testing The CEP290 c.7372A>G variant is predicted to result in the amino acid substitution p.Ser2458Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0032% 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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