ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1095+1G>A

dbSNP: rs140125523
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768826 SCV001993566 uncertain significance not provided 2019-05-10 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477936 SCV002787340 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2021-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538788 SCV003285551 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 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 (rs140125523, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1305619). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001768826 SCV004224973 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing

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