ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2955G>A (p.Met985Ile)

dbSNP: rs2037998320
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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 RCV001212853 SCV001384455 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 985 of the CEP290 protein (p.Met985Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). 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.
PreventionGenetics, part of Exact Sciences RCV004733177 SCV005342821 uncertain significance CEP290-related disorder 2023-12-01 no assertion criteria provided clinical testing The CEP290 c.2955G>A variant is predicted to result in the amino acid substitution p.Met985Ile. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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