ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.257C>T (p.Ala86Val)

gnomAD frequency: 0.00010  dbSNP: rs771414323
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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 RCV001224394 SCV001396586 uncertain significance Immunodeficiency 39 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 99 of the IRF7 protein (p.Ala99Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IRF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 952310). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Ambry Genetics RCV004629497 SCV005122340 uncertain significance not specified 2024-05-07 criteria provided, single submitter clinical testing The c.296C>T (p.A99V) alteration is located in exon 2 (coding exon 2) of the IRF7 gene. This alteration results from a C to T substitution at nucleotide position 296, causing the alanine (A) at amino acid position 99 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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