ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.210G>T (p.Trp70Cys)

gnomAD frequency: 0.00001  dbSNP: rs1344827949
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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 RCV001372776 SCV001569461 uncertain significance Immunodeficiency 39 2020-09-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with IRF7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with cysteine at codon 83 of the IRF7 protein (p.Trp83Cys). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine. 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"). 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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