ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)

gnomAD frequency: 0.00004  dbSNP: rs751417093
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Total submissions: 3
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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.
CeGaT Center for Human Genetics Tuebingen RCV001091996 SCV001248323 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, 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

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