ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=)

dbSNP: rs1602179094
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811210 SCV000951465 uncertain significance Developmental and epileptic encephalopathy, 8 2020-01-28 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ARHGEF9-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 456 of the ARHGEF9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ARHGEF9 protein.

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