ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly)

gnomAD frequency: 0.00004  dbSNP: rs987259388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730959 SCV000858728 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001345563 SCV001539692 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2064 of the CEP290 protein (p.Glu2064Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 595421). 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 disruptive. 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 RCV002536455 SCV003706875 uncertain significance Inborn genetic diseases 2023-12-04 criteria provided, single submitter clinical testing The c.6191A>G (p.E2064G) alteration is located in exon 45 (coding exon 44) of the CEP290 gene. This alteration results from a A to G substitution at nucleotide position 6191, causing the glutamic acid (E) at amino acid position 2064 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830609 SCV002091848 uncertain significance Leber congenital amaurosis 2020-09-10 no assertion criteria provided clinical testing

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