ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2045-1G>A

gnomAD frequency: 0.00003  dbSNP: rs748813106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788195 SCV000927228 uncertain significance not provided 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000800550 SCV000940274 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 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. This variant is present in population databases (rs748813106, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. Disruption of this splice site has been observed in at least one individual who was not affected with IFIH1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 636388). 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.
CeGaT Center for Human Genetics Tuebingen RCV000788195 SCV002544087 likely pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing IFIH1: PVS1, PM2:Supporting

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