ClinVar Miner

Submissions for variant NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)

gnomAD frequency: 0.00001  dbSNP: rs121917780
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Total submissions: 4
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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, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000012874 SCV000891526 uncertain significance Apparent mineralocorticoid excess 2017-12-30 no assertion criteria provided curation
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000012874 SCV001133194 likely pathogenic Apparent mineralocorticoid excess 2019-09-26 no assertion criteria provided clinical testing

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