ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) (rs28934586)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001230 SCV000792483 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000791917 SCV000931185 pathogenic not provided 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 448 of the CYP11B1 protein (p.Arg448His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs28934586, ExAC 0.003%). This variant has been observed o be homozygous or in combination with another CYP11B1 variant in individuals affected with adrenal hyperplasia (PMID: 16030166, 20024693, 27376433), and has been shown to segregate with disease in several families (PMID: 2022736). ClinVar contains an entry for this variant (Variation ID: 1171). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199200 SCV001370222 likely pathogenic Disorder of endocrine system 2019-04-04 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in heterozygous state.
OMIM RCV000001230 SCV000021380 pathogenic Deficiency of steroid 11-beta-monooxygenase 2005-09-01 no assertion criteria provided literature only

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