ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.944A>C (p.Glu315Ala)

dbSNP: rs137853331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719637 SCV005326079 likely pathogenic not provided 2023-10-25 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on protein function (PMID: 19185524); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26085218, 26240016, 19414794, 24682681, 18350553, 28679735, 15661019, 26230867, 22236433, 36569938, 25703555, 16818673, 25764117, 27744027, 24840983, 31123910, 35289316, 35159348, 18851874, 19185524)
OMIM RCV000012222 SCV000032456 pathogenic Immunodeficiency 33 2006-07-10 no assertion criteria provided literature only

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