ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) (rs764963626)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763866 SCV000894800 uncertain significance Leber congenital amaurosis 10; Meckel syndrome type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000228050 SCV000290912 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 851 of the CEP290 protein (p.Val851Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CEP290-related disease. ClinVar contains an entry for this variant (Variation ID: 241583). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Furthermore, the isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.

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