ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)

gnomAD frequency: 0.00004  dbSNP: rs866480852
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504551 SCV000594067 uncertain significance not specified 2016-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000701975 SCV000830802 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 272 of the CEP290 protein (p.Asp272Asn). This variant is present in population databases (no rsID available, gnomAD 0.06%). 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: 434741). 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 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.
New York Genome Center RCV001839009 SCV002099266 uncertain significance Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-04-30 criteria provided, single submitter clinical testing
GeneDx RCV002285345 SCV002575938 uncertain significance not provided 2022-03-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002481611 SCV002784303 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527611 SCV004104093 uncertain significance CEP290-related disorder 2024-03-01 criteria provided, single submitter clinical testing The CEP290 c.814G>A variant is predicted to result in the amino acid substitution p.Asp272Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.073% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001275043 SCV001459797 uncertain significance Leber congenital amaurosis 2020-01-24 no assertion criteria provided clinical testing

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