ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg)

gnomAD frequency: 0.00001  dbSNP: rs371397659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052210 SCV001216409 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2260 of the CEP290 protein (p.Gly2260Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs371397659, 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: "Tolerated"; 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. RCV001832479 SCV002091830 uncertain significance Leber congenital amaurosis 2021-09-10 no assertion criteria provided clinical testing

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