ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) (rs753774484)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516213 SCV000613046 likely pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000516213 SCV001581360 pathogenic not provided 2020-06-13 criteria provided, single submitter clinical testing This sequence change affects codon 318 of the CYP11B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CYP11B1 protein. This variant also falls at the last nucleotide of exon 5 of the CYP11B1 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with adrenal hyperplasia (PMID: 29858860, 31006099, 26956189). ClinVar contains an entry for this variant (Variation ID: 447228). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
Counsyl RCV000667365 SCV000791799 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-05-30 no assertion criteria provided clinical testing

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