Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001968101 | SCV002221841 | uncertain significance | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2022-01-15 | 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. 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. |
| Fulgent Genetics, |
RCV002492051 | SCV002779278 | uncertain significance | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 | 2022-04-21 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003328689 | SCV004035514 | uncertain significance | not provided | 2023-03-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |