ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1291A>T (p.Ile431Phe)

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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 RCV004367751 SCV004854394 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.1291A>T (p.I431F) alteration is located in exon 8 (coding exon 8) of the CYP11B1 gene. This alteration results from a A to T substitution at nucleotide position 1291, causing the isoleucine (I) at amino acid position 431 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040631 SCV005675048 uncertain significance Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2024-05-07 criteria provided, single submitter clinical testing

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