ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) (rs184323010)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529924 SCV000634664 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 2131 of the CEP290 protein (p.Glu2131Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs184323010, ExAC 0.3%). This variant has been observed in an individual affected with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 461788). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000765112 SCV000896334 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2018-10-31 criteria provided, single submitter clinical testing

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