Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000793582 | SCV000932943 | pathogenic | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 198 of the CYP11B2 protein (p.Glu198Asp). This variant is present in population databases (rs104894072, gnomAD 0.01%). This missense change has been observed in individual(s) with aldosterone synthase deficiency (PMID: 9814506, 10965212, 22465514, 30864636). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 242702). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects CYP11B2 function (PMID: 9814506, 21237269). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001535987 | SCV001752658 | likely pathogenic | Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271158 | SCV001452030 | likely pathogenic | Corticosterone 18-monooxygenase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |