Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000255451 | SCV000322230 | pathogenic | not provided | 2021-01-07 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 17164573, 28644236, 31589614) |
| Invitae | RCV000689498 | SCV000817152 | pathogenic | Congenital glaucoma | 2023-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu277*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with primary congenital glaucoma (PMID: 17164573, 19247456). This variant is also known as 1176delT. ClinVar contains an entry for this variant (Variation ID: 265390). For these reasons, this variant has been classified as Pathogenic. |
| 3billion | RCV001808721 | SCV002059058 | likely pathogenic | Glaucoma 3A | 2022-01-03 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000265390, PMID:17164573). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000033, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
| Fulgent Genetics, |
RCV002503968 | SCV002816098 | pathogenic | Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 | 2022-04-18 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001449670 | SCV004215466 | pathogenic | Anterior segment dysgenesis 6 | 2023-09-20 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV001449670 | SCV001652919 | pathogenic | Anterior segment dysgenesis 6 | 2021-05-26 | no assertion criteria provided | literature only |