ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)

gnomAD frequency: 0.00004  dbSNP: rs1006780282
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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 RCV001232629 SCV001405193 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 2360 of the CEP290 protein (p.His2360Pro). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. 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: "Benign"; 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.
Ambry Genetics RCV004033174 SCV004926251 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.7079A>C (p.H2360P) alteration is located in exon 52 (coding exon 51) of the CEP290 gene. This alteration results from a A to C substitution at nucleotide position 7079, causing the histidine (H) at amino acid position 2360 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828853 SCV002091818 uncertain significance Leber congenital amaurosis 2021-06-25 no assertion criteria provided clinical testing

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