ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) (rs387907572)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050225 SCV000796019 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV001239586 SCV001412469 pathogenic not provided 2019-11-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 306 of the CYP11B1 protein (p.Ala306Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with congenital adrenal hyperplasia (PMID: 15807871, 24022297). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 56833). This variant has been reported to affect CYP11B1 protein function (PMID: 24022297). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel RCV000050225 SCV000082804 not provided Deficiency of steroid 11-beta-monooxygenase no assertion provided not provided

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