ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.247G>T (p.Ala83Ser)

gnomAD frequency: 0.00004  dbSNP: rs759798143
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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 RCV001368112 SCV001564493 uncertain significance Immunodeficiency 39 2023-01-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 96 of the IRF7 protein (p.Ala96Ser). This variant is present in population databases (rs759798143, gnomAD 0.05%). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1058922). This variant has not been reported in the literature in individuals affected with IRF7-related conditions.
Ambry Genetics RCV004037034 SCV003880743 uncertain significance not specified 2023-01-26 criteria provided, single submitter clinical testing The c.286G>T (p.A96S) alteration is located in exon 2 (coding exon 2) of the IRF7 gene. This alteration results from a G to T substitution at nucleotide position 286, causing the alanine (A) at amino acid position 96 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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