Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV000012874 | SCV002521479 | likely pathogenic | Apparent mineralocorticoid excess | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.85; 3Cnet: 0.05). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with HSD11B2 related disorder (ClinVar ID: VCV000012093 / PMID: 7670488). A different missense change at the same codon (p.Arg208His) has also been reported to be associated with HSD11B2 related disorder (ClinVar ID: VCV000012096 / PMID: 9398712). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000012874 | SCV000033115 | pathogenic | Apparent mineralocorticoid excess | 1995-08-01 | no assertion criteria provided | literature only | |
Department Of Genetics, |
RCV000012874 | SCV000891526 | uncertain significance | Apparent mineralocorticoid excess | 2017-12-30 | no assertion criteria provided | curation | |
Biochemical Molecular Genetic Laboratory, |
RCV000012874 | SCV001133194 | likely pathogenic | Apparent mineralocorticoid excess | 2019-09-26 | no assertion criteria provided | clinical testing |