ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.719T>C (p.Val240Ala)

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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 RCV002604158 SCV002959093 uncertain significance Immunodeficiency 39 2022-08-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs772123983, gnomAD 0.001%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 253 of the IRF7 protein (p.Val253Ala). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. 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 alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Ambry Genetics RCV004065740 SCV004889374 uncertain significance not specified 2023-12-09 criteria provided, single submitter clinical testing The c.758T>C (p.V253A) alteration is located in exon 5 (coding exon 5) of the IRF7 gene. This alteration results from a T to C substitution at nucleotide position 758, causing the valine (V) at amino acid position 253 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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