ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2950A>G (p.Ile984Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002786516 SCV003033405 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-03-04 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This variant is present in population databases (rs753514874, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 984 of the IFIH1 protein (p.Ile984Val).

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