ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs)

dbSNP: rs1569556615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003162240 SCV003915107 pathogenic not provided 2023-04-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 49 amino acids are replaced with 23 different amino acids, and other loss-of-function variants have been reported downstream (HGMD; Ohnishi et al., 2017; Kawai et al., 2012; Aradhya et al., 2001); No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 28702714, 22517901, 11179023, 24339369, 10839543, 18350553)
OMIM RCV000012201 SCV000032435 pathogenic Incontinentia pigmenti syndrome 2000-05-25 no assertion criteria provided literature only

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