ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)

gnomAD frequency: 0.00001  dbSNP: rs1412048304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673616 SCV000798841 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2018-03-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673616 SCV005059293 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702305 SCV005204539 likely pathogenic Congenital adrenal hyperplasia 2024-06-20 criteria provided, single submitter clinical testing Variant summary: CYP11B1 c.1145T>G (p.Leu382Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250738 control chromosomes. c.1145T>G has been reported in the literature in the compound heterozygous state in a female individual with a diagnosis of classic 11-beta-hydroxylase deficiency (Mooij_2015). This suggests the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function and found that the variant results in a complete loss of CYP11B1 enzymatic activity in vitro (Mooij_2015). The following publication has been ascertained in the context of this evaluation (PMID: 26053152). ClinVar contains an entry for this variant (Variation ID: 557468). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005046906 SCV005675068 likely pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2024-06-20 criteria provided, single submitter clinical testing

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