ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.182G>A (rs28936700)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255452 SCV000321539 pathogenic not provided 2017-09-26 criteria provided, single submitter clinical testing The G61E pathogenic variant in the CYP1B1 gene has been reported previously in the homozygous state and in the compound heterozygous state with multiple other pathogenic variants in patients with primary congenital glaucoma (Bejjani et al., 1998; Stoilov et al., 1998). It has also been reported in the homozygous state in unaffected or mildly affected family members, although some family members were noted to have eye findings on exam after genotyping (Bejjani et al., 1998). The G61E variant is observed in 22/26024 (0.085%) alleles from non-Finnish European individuals in the ExAC dataset, with no homozygous individuals reported (Lek et al., 2016). The G61E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. Functional studies showed that G61E results in significantly reduced protein stability and enzymatic activity (López-Garrido et al., 2010; Chavarria-Soley et al., 2008). We interpret G61E as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763083 SCV000893609 pathogenic Glaucoma 3, primary congenital, A; Glaucoma 3, primary infantile, b; Anterior segment dysgenesis 6 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000008169 SCV001162951 pathogenic Glaucoma 3, primary congenital, A criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000255452 SCV001247370 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV001206715 SCV001378037 pathogenic Congenital glaucoma 2019-10-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 61 of the CYP1B1 protein (p.Gly61Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs28936700, ExAC 0.08%). This variant has been observed in many individuals and families affected with primary congenital glaucoma (PMID: 9463332, 19234632, 12372064). This variant is also known as c.3987G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 7730). This variant has been reported to affect CYP1B1 protein function (PMID: 19793111, 27243976, 18470941). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000255452 SCV001480127 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335112 SCV001528169 pathogenic Anterior segment dysgenesis 6 2018-12-28 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Nilou-Genome Lab RCV000008169 SCV001623487 pathogenic Glaucoma 3, primary congenital, A 2021-05-18 criteria provided, single submitter clinical testing
OMIM RCV000008169 SCV000028374 pathogenic Glaucoma 3, primary congenital, A 2002-10-01 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000008169 SCV000891494 uncertain significance Glaucoma 3, primary congenital, A 2017-12-30 no assertion criteria provided curation
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000008169 SCV001132972 pathogenic Glaucoma 3, primary congenital, A 2019-08-25 no assertion criteria provided clinical testing
OMIM RCV001335112 SCV001652917 pathogenic Anterior segment dysgenesis 6 2002-10-01 no assertion criteria provided literature only

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