ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.722A>G (p.Lys241Arg)

gnomAD frequency: 0.00001  dbSNP: rs199790246
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723927 SCV000202423 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000723927 SCV000619017 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001246749 SCV001420131 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 241 of the CEP290 protein (p.Lys241Arg). This variant is present in population databases (rs199790246, gnomAD 0.005%). 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: 166840). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEP290 protein function. 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.
Ambry Genetics RCV002514945 SCV003713328 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.722A>G (p.K241R) alteration is located in exon 10 (coding exon 9) of the CEP290 gene. This alteration results from a A to G substitution at nucleotide position 722, causing the lysine (K) at amino acid position 241 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274133 SCV001457930 uncertain significance Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732714 SCV005350437 uncertain significance CEP290-related disorder 2024-05-24 no assertion criteria provided clinical testing The CEP290 c.722A>G variant is predicted to result in the amino acid substitution p.Lys241Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% 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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