ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.216A>T (p.Glu72Asp)

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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 RCV003092862 SCV003483086 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 72 of the CEP290 protein (p.Glu72Asp). This variant is present in population databases (rs750607382, gnomAD 0.002%). 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: "Probably 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.
Ambry Genetics RCV003161817 SCV003894184 uncertain significance Inborn genetic diseases 2023-01-17 criteria provided, single submitter clinical testing The c.216A>T (p.E72D) alteration is located in exon 4 (coding exon 3) of the CEP290 gene. This alteration results from a A to T substitution at nucleotide position 216, causing the glutamic acid (E) at amino acid position 72 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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