ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2060A>T (p.Glu687Val)

gnomAD frequency: 0.00002  dbSNP: rs932362741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043450 SCV001207197 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 687 of the CEP290 protein (p.Glu687Val). 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: 841264). 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 RCV004031320 SCV004926216 uncertain significance Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.2060A>T (p.E687V) alteration is located in exon 21 (coding exon 20) of the CEP290 gene. This alteration results from a A to T substitution at nucleotide position 2060, causing the glutamic acid (E) at amino acid position 687 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271587 SCV001452854 uncertain significance Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004536079 SCV004115697 uncertain significance CEP290-related disorder 2023-10-27 no assertion criteria provided clinical testing The CEP290 c.2060A>T variant is predicted to result in the amino acid substitution p.Glu687Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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