Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001140338 | SCV001300583 | uncertain significance | Irido-corneo-trabecular dysgenesis | 2017-04-27 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Illumina Laboratory Services, |
RCV001140339 | SCV001300584 | uncertain significance | Glaucoma 3A | 2017-04-27 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001806028 | SCV002050804 | uncertain significance | not specified | 2021-12-07 | criteria provided, single submitter | clinical testing | Variant summary: CYP1B1 c.701C>T (p.Thr234Met) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 245132 control chromosomes, predominantly at a frequency of 0.00039 within the South Asian subpopulation in the gnomAD database, including 1 homozygote. This frequency is somewhat lower than the maximum expected for a pathogenic variant in CYP1B1 causing Primary Congenital Glaucoma (0.0043), allowing no clear conclusions about variant significance. The variant, c.701C>T, has been reported in the literature in heterozygous state in a Pakistani individual who was affected with sporadic primary open angle glaucoma (POAG), where no other variant was identified in trans (Micheal_2015). This report does not provide unequivocal conclusions about association of the variant with Primary Congenital Glaucoma. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014, and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV002482267 | SCV002793037 | uncertain significance | Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 | 2022-01-21 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003594094 | SCV004275368 | likely benign | Congenital glaucoma | 2024-01-13 | criteria provided, single submitter | clinical testing |