ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)

gnomAD frequency: 0.00002  dbSNP: rs28934586
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Total submissions: 6
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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 2023-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 448 of the CYP11B1 protein (p.Arg448His). This variant is present in population databases (rs28934586, gnomAD 0.006%). This missense change has been observed in individuals with adrenal hyperplasia (PMID: 2022736, 16030166, 20024693, 27376433). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1171). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CYP11B1 protein function. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199200 SCV001370222 likely pathogenic Glucocorticoid-remediable aldosteronism 2019-04-04 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
Fulgent Genetics, Fulgent Genetics RCV002496223 SCV002801142 pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000001230 SCV004215331 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-10-17 criteria provided, single submitter clinical testing
OMIM RCV000001230 SCV000021380 pathogenic Deficiency of steroid 11-beta-monooxygenase 2005-09-01 no assertion criteria provided literature only

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