ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)

gnomAD frequency: 0.00004  dbSNP: rs200810568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689004 SCV000816639 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-10-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 568597). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This variant is present in population databases (rs200810568, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 819 of the IFIH1 protein (p.Ala819Asp).
GeneDx RCV003318625 SCV004023149 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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