ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu)

dbSNP: rs780375623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049425 SCV002109311 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-10-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 2320 of the CEP290 protein (p.Gln2320Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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 RCV002545721 SCV003556303 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.6959A>T (p.Q2320L) alteration is located in exon 50 (coding exon 49) of the CEP290 gene. This alteration results from a A to T substitution at nucleotide position 6959, causing the glutamine (Q) at amino acid position 2320 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006099 SCV005630363 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-04-16 criteria provided, single submitter clinical testing

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