ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter)

gnomAD frequency: 0.00001  dbSNP: rs72549388
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Total submissions: 3
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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, 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

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