ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser)

gnomAD frequency: 0.00001  dbSNP: rs373207132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245242 SCV001418515 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1108 of the CEP290 protein (p.Asn1108Ser). This variant is present in population databases (rs373207132, gnomAD 0.003%). 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: 969814). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Natera, Inc. RCV001835231 SCV002094265 uncertain significance Leber congenital amaurosis 2021-04-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733208 SCV005362455 uncertain significance CEP290-related disorder 2024-07-17 no assertion criteria provided clinical testing The CEP290 c.3323A>G variant is predicted to result in the amino acid substitution p.Asn1108Ser. 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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