ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr)

gnomAD frequency: 0.00001  dbSNP: rs535765861
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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 RCV000199740 SCV000255129 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 2183 of the CEP290 protein (p.His2183Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with retinal dystrophy (PMID: 28224992). ClinVar contains an entry for this variant (Variation ID: 216769). 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: "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.
Genetic Services Laboratory, University of Chicago RCV000504346 SCV000594070 uncertain significance not specified 2015-10-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833162 SCV002091840 uncertain significance Leber congenital amaurosis 2021-04-09 no assertion criteria provided clinical testing

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