ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)

gnomAD frequency: 0.00008  dbSNP: rs772648931
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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 RCV001340192 SCV001533991 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-19 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 2329 of the CEP290 protein (p.Glu2329Gly). This variant is present in population databases (rs772648931, gnomAD 0.03%). 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: 1037092). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV002476569 SCV002789435 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546891 SCV003662263 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.6986A>G (p.E2329G) alteration is located in exon 51 (coding exon 50) of the CEP290 gene. This alteration results from a A to G substitution at nucleotide position 6986, causing the glutamic acid (E) at amino acid position 2329 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830418 SCV002091822 uncertain significance Leber congenital amaurosis 2020-06-15 no assertion criteria provided clinical testing

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