ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1105C>T (p.Arg369Trp)

dbSNP: rs779495519
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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 RCV000817630 SCV000958199 uncertain significance Immunodeficiency 39 2018-12-25 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"). This variant has not been reported in the literature in individuals with IRF7-related conditions. This variant is present in population databases (rs779495519, ExAC 0.01%). This sequence change replaces arginine with tryptophan at codon 382 of the IRF7 protein (p.Arg382Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan.

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