ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)

dbSNP: rs74162087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714853 SCV000845592 uncertain significance Aicardi-Goutieres syndrome 7 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714854 SCV000845593 uncertain significance Singleton-Merten syndrome 1 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532981 SCV003011168 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-09-07 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 587614). This missense change has been observed in at least one individual who was not affected with IFIH1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 820 of the IFIH1 protein (p.Arg820Pro).

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