ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg)

dbSNP: rs1337960015
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343166 SCV001537130 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 2298 of the CEP290 protein (p.Gln2298Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. 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.
Ambry Genetics RCV004611772 SCV005105327 uncertain significance Inborn genetic diseases 2024-05-26 criteria provided, single submitter clinical testing The c.6893A>G (p.Q2298R) alteration is located in exon 50 (coding exon 49) of the CEP290 gene. This alteration results from a A to G substitution at nucleotide position 6893, causing the glutamine (Q) at amino acid position 2298 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825892 SCV002091827 uncertain significance Leber congenital amaurosis 2021-01-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004528470 SCV004104618 uncertain significance CEP290-related disorder 2024-09-19 no assertion criteria provided clinical testing The CEP290 c.6893A>G variant is predicted to result in the amino acid substitution p.Gln2298Arg. 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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