ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) (rs371582975)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225844 SCV000290914 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-11-27 criteria provided, single submitter clinical testing This sequence change affects codon 1646 of the CEP290 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEP290 protein. This variant is present in population databases (rs371582975, ExAC 0.05%) but has not been reported in the literature in individuals with a CEP290-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare silent change with uncertain impact on splicing and protein function. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000763863 SCV000894797 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

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