ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1216G>A (p.Asp406Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002781569 SCV003031541 uncertain significance Immunodeficiency 39 2021-12-22 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (rs757383689, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 419 of the IRF7 protein (p.Asp419Asn).
PreventionGenetics, part of Exact Sciences RCV003898542 SCV004716165 uncertain significance IRF7-related disorder 2023-11-30 no assertion criteria provided clinical testing The IRF7 c.1255G>A variant is predicted to result in the amino acid substitution p.Asp419Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0032% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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