ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)

gnomAD frequency: 0.00004  dbSNP: rs762417751
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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 RCV001201417 SCV001372484 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1414 of the CEP290 protein (p.Leu1414Val). This variant is present in population databases (rs762417751, 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: 933243). 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.
GeneDx RCV003442758 SCV004169464 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001828617 SCV002094231 uncertain significance Leber congenital amaurosis 2020-02-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538436 SCV004121196 uncertain significance CEP290-related disorder 2024-03-14 no assertion criteria provided clinical testing The CEP290 c.4240C>G variant is predicted to result in the amino acid substitution p.Leu1414Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.031% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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