ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)

gnomAD frequency: 0.00001  dbSNP: rs753760503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048254 SCV001212247 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 27 of the CEP290 protein (p.Asn27Asp). This variant is present in population databases (rs753760503, gnomAD 0.004%). 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: 845228). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002468122 SCV002764279 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 2020-11-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832450 SCV002094947 uncertain significance Leber congenital amaurosis 2020-09-22 no assertion criteria provided clinical testing

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