ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) (rs121912978)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808165 SCV000948259 likely pathogenic not provided 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 185 of the CYP11B2 protein (p.Thr185Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs121912978, ExAC 0.009%). This variant has been observed to be homozygous or in combination with another CYP11B2 variant in individuals affected with hypoaldosteronism (PMID: 9625333, 12788848, 22565077, 22931312). ClinVar contains an entry for this variant (Variation ID: 16881). Experimental studies have shown that this missense change disrupts enzyme activity (PMID: 12788848, 21237269). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000018377 SCV000038659 pathogenic Corticosterone methyloxidase type 2 deficiency 2003-06-01 no assertion criteria provided literature only

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