Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820941 | SCV000961679 | uncertain significance | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2023-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 953 of the IFIH1 protein (p.Asp953Asn). This variant is present in population databases (rs751417093, gnomAD 0.004%). 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: 663134). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt IFIH1 function with a negative predictive value of 95%. 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. |
Ce |
RCV001091996 | SCV001248323 | uncertain significance | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478920 | SCV002789785 | uncertain significance | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 | 2022-04-06 | criteria provided, single submitter | clinical testing |