Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001953231 | SCV002218363 | pathogenic | Congenital glaucoma | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln19*) in the CYP1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP1B1 are known to be pathogenic (PMID: 9097971, 9497261, 19234632). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with glaucoma (PMID: 12036985). This variant is also known as c.3860C>T. ClinVar contains an entry for this variant (Variation ID: 1442930). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002484725 | SCV002784049 | pathogenic | Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 | 2021-08-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003471094 | SCV004215455 | pathogenic | Anterior segment dysgenesis 6 | 2023-10-21 | criteria provided, single submitter | clinical testing |