ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)

dbSNP: rs767250881
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533595 SCV000634644 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 731 of the CEP290 protein (p.Gln731Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs767250881, ExAC 0.08%). 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.
Fulgent Genetics, Fulgent Genetics RCV002491000 SCV002782209 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-02-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144329 SCV003831578 uncertain significance not provided 2019-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975650 SCV005554820 uncertain significance Inborn genetic diseases 2024-06-28 criteria provided, single submitter clinical testing The c.2191C>A (p.Q731K) alteration is located in exon 21 (coding exon 20) of the CEP290 gene. This alteration results from a C to A substitution at nucleotide position 2191, causing the glutamine (Q) at amino acid position 731 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829575 SCV002094301 uncertain significance Leber congenital amaurosis 2019-10-28 no assertion criteria provided clinical testing

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