ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.240-2A>G

gnomAD frequency: 0.00001  dbSNP: rs1442525444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939543 SCV002235752 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the CYP11B2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CYP11B2 are known to be pathogenic (PMID: 20494601, 22801770, 26936515). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individual(s) with aldosterone synthase deficiency (PMID: 26936515). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1454609). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 26936515). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002479578 SCV002779981 pathogenic Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency 2022-04-28 criteria provided, single submitter clinical testing

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