ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.36C>G (p.Arg12=)

dbSNP: rs1683553380
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225903 SCV001398197 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2019-07-25 criteria provided, single submitter clinical testing This sequence change affects codon 12 of the IFIH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IFIH1 protein. This variant is not present in population databases (ExAC no frequency). 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 create or strengthen a 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 IFIH1-related conditions.

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