ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly)

gnomAD frequency: 0.00004  dbSNP: rs148623633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308706 SCV001498173 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-11-08 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1010975). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This variant is present in population databases (rs148623633, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 953 of the IFIH1 protein (p.Asp953Gly).
GeneDx RCV001751591 SCV001987534 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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