ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)

dbSNP: rs1326688256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667891 SCV000792403 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-06-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667891 SCV004215336 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-10-03 criteria provided, single submitter clinical testing
Invitae RCV003558494 SCV004295954 pathogenic not provided 2023-11-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 331 of the CYP11B1 protein (p.Ala331Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with congenital adrenal hyperplasia (PMID: 8768848, 28228528). ClinVar contains an entry for this variant (Variation ID: 552598). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CYP11B1 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 8768848). For these reasons, this variant has been classified as Pathogenic.

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