ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn)

gnomAD frequency: 0.00001  dbSNP: rs534440681
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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 RCV000636989 SCV000758437 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2437 of the CEP290 protein (p.Lys2437Asn). This variant is present in population databases (rs534440681, gnomAD 0.01%). 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: 530915). 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.
Natera, Inc. RCV001835024 SCV002091811 uncertain significance Leber congenital amaurosis 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732983 SCV005360422 uncertain significance CEP290-related disorder 2024-07-22 no assertion criteria provided clinical testing The CEP290 c.7311G>T variant is predicted to result in the amino acid substitution p.Lys2437Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian 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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