ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)

dbSNP: rs1565845877
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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 RCV001868919 SCV002194993 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-06-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1277 of the CEP290 protein (p.Ala1277Leu). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 591192). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002477673 SCV002786513 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-02-09 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722369 SCV000853500 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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