ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1152A>G (p.Gln384=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055754 SCV001220159 uncertain significance Nephronophthisis 15 2019-12-06 criteria provided, single submitter clinical testing This sequence change affects codon 384 of the CEP164 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEP164 protein. This variant is present in population databases (rs368171178, ExAC 0.009%). This variant has not been reported in the literature in individuals with CEP164-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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