ClinVar Miner

Submissions for variant NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002300756 SCV002587918 uncertain significance not provided 2022-04-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223436 SCV003918928 uncertain significance Au-Kline syndrome 2023-04-20 criteria provided, single submitter research

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