ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)

gnomAD frequency: 0.00004  dbSNP: rs104894068
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781159 SCV002018095 pathogenic not provided 2021-01-15 criteria provided, single submitter clinical testing
Mendelics RCV002247232 SCV002519465 pathogenic Glucocorticoid-remediable aldosteronism 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496224 SCV002811722 likely pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-03-27 criteria provided, single submitter clinical testing
3billion RCV000001237 SCV003841758 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.77; 3Cnet: 0.77). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with CYP11B1 related disorder (ClinVar ID: VCV000001178 / PMID: 9302260). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 9302260). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV000001237 SCV004215334 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-10-06 criteria provided, single submitter clinical testing
OMIM RCV000001237 SCV000021387 pathogenic Deficiency of steroid 11-beta-monooxygenase 1997-10-01 no assertion criteria provided literature only

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