ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)

gnomAD frequency: 0.00001  dbSNP: rs779103938
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224289 SCV000281442 pathogenic not provided 2015-04-01 criteria provided, single submitter clinical testing
Counsyl RCV000672120 SCV000797187 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2018-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000224289 SCV000841759 likely pathogenic not provided 2018-06-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494612 SCV002810306 likely pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-03-18 criteria provided, single submitter clinical testing
Invitae RCV000224289 SCV003440668 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 15751602, 26053152). 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. ClinVar contains an entry for this variant (Variation ID: 235678). This missense change has been observed in individual(s) with adrenal hyperplasia (PMID: 15751602, 26053152, 33275286). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 444 of the CYP11B1 protein (p.Gly444Asp).
Baylor Genetics RCV000672120 SCV004215361 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-04-24 criteria provided, single submitter clinical testing

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