ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)

gnomAD frequency: 0.00002  dbSNP: rs764251434
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668003 SCV000792542 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2017-06-30 criteria provided, single submitter clinical testing
Molecular Endocrinology Laboratory, Christian Medical College RCV000668003 SCV001890910 likely pathogenic Deficiency of steroid 11-beta-monooxygenase criteria provided, single submitter clinical testing
Invitae RCV002530733 SCV003514143 pathogenic not provided 2023-03-21 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 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: 552695). This missense change has been observed in individuals with autosomal recessive congenital adrenal hyperplasia (23940125 33275286 34718183). This variant is present in population databases (rs764251434, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 138 of the CYP11B1 protein (p.Arg138Cys). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000668003 SCV004215340 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-09-11 criteria provided, single submitter clinical testing

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