ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.1282G>A (p.Ala428Thr)

gnomAD frequency: 0.15022  dbSNP: rs4251545
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325464 SCV000378735 benign Immunodeficiency 67 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455521 SCV000539391 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1 paper claims increased risk of gram positive infection
Labcorp Genetics (formerly Invitae), Labcorp RCV000325464 SCV001719748 benign Immunodeficiency 67 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001653515 SCV001869634 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21576904)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455521 SCV004102430 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 27% of patients studied by a panel of primary immunodeficiencies. Number of patients: 26. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001653515 SCV005230564 benign not provided criteria provided, single submitter not provided

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