ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5413C>T (p.Leu1805Phe)

gnomAD frequency: 0.00002  dbSNP: rs1366280320
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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 RCV001959878 SCV002214835 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1805 of the CEP290 protein (p.Leu1805Phe). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1432476). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CEP290 protein function. 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.
Department of Human Genetics, Hannover Medical School RCV003319494 SCV004024073 uncertain significance Stuve-Wiedemann syndrome 2 2023-08-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002691 SCV005629995 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-01-04 criteria provided, single submitter clinical testing

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