ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.769+3A>G

dbSNP: rs769979161
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508799 SCV002818281 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
Invitae RCV001269326 SCV004592795 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-10-09 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the IFIH1 gene. It does not directly change the encoded amino acid sequence of the IFIH1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs769979161, gnomAD 0.003%). This variant has been observed in individual(s) with periodic fever (PMID: 33440462). ClinVar contains an entry for this variant (Variation ID: 987916). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001269326 SCV001448266 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2020-10-04 flagged submission clinical testing

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