ClinVar Miner

Submissions for variant NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) (rs1555518481)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517382 SCV000613668 uncertain significance not specified 2017-03-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV000995564 SCV001149804 pathogenic Apparent mineralocorticoid excess 2018-01-25 no assertion criteria provided clinical testing
GeneDx RCV001570971 SCV001795349 uncertain significance not provided 2020-11-18 no assertion criteria provided clinical testing Observed in an unrelated patient with mineralocorticoid excess in published literature; no detailed information available (Rodriguez-Flores et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In-silico analysis using splice predictors 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.; This variant is associated with the following publications: (PMID: 24123366, 25593612, 29229831)

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