ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met) (rs104894061)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000001232 SCV000845234 pathogenic Deficiency of steroid 11-beta-monooxygenase 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV001066246 SCV001231252 pathogenic not provided 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 318 of the CYP11B1 protein (p.Thr318Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs104894061, ExAC 0.002%). This variant has been observed to segregate with adrenal hyperplasia in a family and has also been observed in several individuals affected with adrenal hyperplasia (PMID: 8506298, 10487675, 28228528). ClinVar contains an entry for this variant (Variation ID: 1173). This variant has been reported to affect CYP11B1 protein function (PMID: 8506298). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001232 SCV000021382 pathogenic Deficiency of steroid 11-beta-monooxygenase 2009-07-01 no assertion criteria provided literature only

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