ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.485C>A (p.Thr162Lys)

gnomAD frequency: 0.00001  dbSNP: rs766554952
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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 RCV001225789 SCV001398081 uncertain significance Immunodeficiency 39 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 175 of the IRF7 protein (p.Thr175Lys). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and lysine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with IRF7-related conditions. 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. 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.

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