ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr)

gnomAD frequency: 0.00001  dbSNP: rs768539400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063880 SCV001228744 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 2194 of the CEP290 protein (p.Ser2194Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs768539400, ExAC 0.03%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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