ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg)

gnomAD frequency: 0.00002  dbSNP: rs772550529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242907 SCV001416028 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1143 of the CEP290 protein (p.Lys1143Arg). This variant is present in population databases (rs772550529, gnomAD 0.05%). 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: 967891). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Natera, Inc. RCV001829005 SCV002094262 uncertain significance Leber congenital amaurosis 2020-02-21 no assertion criteria provided clinical testing

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