ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)

gnomAD frequency: 0.00005  dbSNP: rs200151403
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817652 SCV002072184 uncertain significance not specified 2017-09-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478062 SCV002793170 uncertain significance Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-04-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001817652 SCV004028763 uncertain significance not specified 2023-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980737 SCV005567590 uncertain significance Inborn genetic diseases 2024-11-15 criteria provided, single submitter clinical testing The c.457G>A (p.A153T) alteration is located in exon 3 (coding exon 3) of the CYP11B1 gene. This alteration results from a G to A substitution at nucleotide position 457, causing the alanine (A) at amino acid position 153 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005095284 SCV005774110 uncertain significance not provided 2024-12-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 153 of the CYP11B1 protein (p.Ala153Thr). This variant is present in population databases (rs200151403, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CYP11B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1338281). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CYP11B1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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