ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) (rs193922538)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029643 SCV000052295 likely pathogenic Congenital adrenal hyperplasia 2019-10-16 criteria provided, single submitter curation CYP11B1 c.125C>T (p.Pro42Leu) results in a non-conservative amino acid change. Five in-silico tools predict a damaging effect. The variant allele was found at a frequency of 9.9e-05 in 251416 control chrs. This frequency is not significantly higher than expected for a pathogenic variant in CYP11B1. c.125C>T has been reported in an individual in compound heterozygous state, who was affected with classic CYP11B1 deficiency (Mooij_2015). In a functional study, the variant was found to have approximately 10% of wild-type enzymatic activity (Mooij_2015). This variant has also been observed in compound heterozygous state with c.1269T>G (p.Tyr423X) in one patient tested in our laboratory (phase and clinical information not available, patient lost to follow-up). In addition, another variant affecting the same codon (c.124C>T p.P42S) has been reported in patients with 11OHD deficiency (HGMD database). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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