ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)

dbSNP: rs951910051
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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 RCV000814173 SCV000954574 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1743 of the CEP290 protein (p.Ala1743Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002495144 SCV002798256 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830781 SCV002094199 uncertain significance Leber congenital amaurosis 2020-02-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538118 SCV004712858 uncertain significance CEP290-related disorder 2024-02-14 no assertion criteria provided clinical testing The CEP290 c.5228C>T variant is predicted to result in the amino acid substitution p.Ala1743Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00097% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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