ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1765+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1292220162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001914567 SCV002143041 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-06-25 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. ClinVar contains an entry for this variant (Variation ID: 1378241). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This sequence change affects a donor splice site in intron 9 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.
GeneDx RCV003322899 SCV004027923 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Canonical splice site variant in a gene for which loss-of-function is not a known mechanism of disease

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