ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1001C>T (p.Pro334Leu)

gnomAD frequency: 0.00002  dbSNP: rs777340532
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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 RCV001318062 SCV001508750 uncertain significance Immunodeficiency 39 2022-02-04 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1018722). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 347 of the IRF7 protein (p.Pro347Leu).
Breakthrough Genomics, Breakthrough Genomics RCV004692481 SCV005191082 uncertain significance not provided criteria provided, single submitter not provided

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