Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001858523 | SCV002236436 | pathogenic | not provided | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His47Ilefs*12) in the PROM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PROM1 are known to be pathogenic (PMID: 17605048, 19718270, 24154662, 25474345). This variant is present in population databases (rs747512450, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive retinitis pigmentosa (PMID: 24938718, 31054281). ClinVar contains an entry for this variant (Variation ID: 694038). For these reasons, this variant has been classified as Pathogenic. |
| 3billion | RCV002051900 | SCV002318707 | pathogenic | Retinitis pigmentosa 41 | 2022-03-22 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported as pathogenic (ClinVar ID: VCV000694038, PMID:24938718, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000281). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Columbia University Laboratory of Personalized Genomic Medicine, |
RCV000855430 | SCV000996524 | pathogenic | Leber congenital amaurosis 1 | 2019-08-22 | no assertion criteria provided | research | This is the first reported case of PROM1-associated Leber Congenital Amaurosis. |