ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg)

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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 RCV003074086 SCV003449009 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-04-22 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 2028 of the CEP290 protein (p.Lys2028Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs749626770, ExAC 0.006%). This variant has not been reported in the literature in individuals with CEP290-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV004070263 SCV004926244 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.6083A>G (p.K2028R) alteration is located in exon 44 (coding exon 43) of the CEP290 gene. This alteration results from a A to G substitution at nucleotide position 6083, causing the lysine (K) at amino acid position 2028 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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