ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) (rs775128501)

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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 RCV000517484 SCV000613044 pathogenic not provided 2016-09-22 criteria provided, single submitter clinical testing
Counsyl RCV000668927 SCV000793605 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-08-25 criteria provided, single submitter clinical testing
Invitae RCV000517484 SCV001399058 pathogenic not provided 2019-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser281Asnfs*19) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with congenital adrenal hyperplasia (PMID: 24334966). This variant is also known as 3467^3468insACAGTACACCA in the literature. ClinVar contains an entry for this variant (Variation ID: 447227). 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. Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). For these reasons, this variant has been classified as Pathogenic.

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