ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.521A>T (p.Glu174Val)

gnomAD frequency: 0.00001  dbSNP: rs774484028
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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 RCV001361321 SCV001557294 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-03-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 174 of the CEP290 protein (p.Glu174Val). This variant is present in population databases (rs774484028, gnomAD 0.006%). 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: 1053032). 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 RCV002488097 SCV002786218 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831217 SCV002094933 uncertain significance Leber congenital amaurosis 2020-12-08 no assertion criteria provided clinical testing

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