ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)

gnomAD frequency: 0.00001  dbSNP: rs1489638195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665385 SCV000789499 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2017-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271551 SCV002555869 likely pathogenic Congenital adrenal hyperplasia 2022-06-14 criteria provided, single submitter clinical testing Variant summary: CYP11B1 c.235T>A (p.Phe79Ile) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250986 control chromosomes (gnomAD). c.235T>A has been reported in the literature in at least one individual affected with Steroid 11 -hydroxylase (CYP11B1) deficiency (Reisch_2013). These data indicate that the variant is very likely to be associated with disease. At least one functional study reports experimental evidence evaluating an impact on protein function and this variant effect results in less than 10% of normal activity in transfected cells (Reisch_2013). One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV000665385 SCV004215362 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-04-11 criteria provided, single submitter clinical testing

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