ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg)

dbSNP: rs2035881706
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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 RCV001237871 SCV001410653 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-31 criteria provided, single submitter clinical testing This variant, c.5577_5579del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the CEP290 protein (p.Ser1859_Gly1860delinsArg). This variant is not present in population databases (gnomAD no frequency). 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: 963793). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. RCV001828894 SCV002091865 uncertain significance Leber congenital amaurosis 2020-02-13 no assertion criteria provided clinical testing

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