ClinVar Miner

Submissions for variant NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) (rs9282671)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078126 SCV000109964 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000766838 SCV000616696 uncertain significance not provided 2017-08-07 criteria provided, single submitter clinical testing The Y81N variant has been reported previously in association with primary congenital glaucoma (PCG), primary open-angle glaucoma (POAG), and coloboma and micropthalmia (Melki et al., 2004; Millá et al., 2013; Prokudin et al., 2014; Reis et al., 2016; Rauf et al., 2016). However, many of these patients were not observed to harbor a second variant in CYP1B1, and Y81N was not observed to segregate with disease in some families. The variant is observed in 21/29344 (0.72%) alleles from individuals of Latino background in the ExAC dataset, including 4 homozygotes, indicating it may be a benign variant in this population (Lek et al., 2016). However, Y81N is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Functional studies have shown that Y81N leads to a reduction in CYP1B1 enzyme activity compared to the wild type (Choudhary et al., 2008; Banerjee et al., 2016). In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001087298 SCV001021403 benign Glaucoma, congenital 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000766838 SCV001152237 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139670 SCV001299846 uncertain significance Irido-corneo-trabecular dysgenesis 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001139671 SCV001299847 likely benign Glaucoma 3, primary congenital, A 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000008185 SCV000028392 pathogenic Primary open angle glaucoma 2008-09-01 no assertion criteria provided literature only
Eye Genetics Research Group,Children's Medical Research Institute RCV000059337 SCV000087416 uncertain significance Congenital ocular coloboma 2012-03-30 no assertion criteria provided research

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