ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp)

gnomAD frequency: 0.00004  dbSNP: rs372321551
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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 RCV001345711 SCV001539849 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 914 of the CEP290 protein (p.Asn914Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs372321551, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. 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: "Possibly 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.
Natera, Inc. RCV001831115 SCV002094280 uncertain significance Leber congenital amaurosis 2021-06-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733264 SCV005350887 uncertain significance CEP290-related disorder 2024-05-26 no assertion criteria provided clinical testing The CEP290 c.2740A>G variant is predicted to result in the amino acid substitution p.Asn914Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% 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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