ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003004834 SCV003714518 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.1240C>G (p.P414A) alteration is located in exon 8 (coding exon 8) of the CYP11B1 gene. This alteration results from a C to G substitution at nucleotide position 1240, causing the proline (P) at amino acid position 414 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333809 SCV004041781 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2023-10-09 no assertion criteria provided clinical testing

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