ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.1325del (p.Pro442fs)

dbSNP: rs770799584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251048 SCV002521413 likely pathogenic Glaucoma 3A 2022-05-22 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%). Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. The variant has been reported to be associated with CYP1B1- related disorder (PMID: 27508083). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV003238892 SCV003936477 pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 102 amino acids are replaced with 14 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27777502, 27508083, 30820150, 35085548)

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