ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.875-1G>C

dbSNP: rs1682933667
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Total submissions: 2
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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 RCV001733720 SCV001984545 uncertain significance Aicardi-Goutieres syndrome 7 2021-02-16 criteria provided, single submitter clinical testing
Invitae RCV003771894 SCV004579949 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-01-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1301771). 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. Disruption of this splice site has been observed in at least one individual who was not affected with IFIH1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 4 of the IFIH1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IFIH1 cause disease.

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