Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704858 | SCV000833829 | pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2024-01-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg587*) in the PIGN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIGN are known to be pathogenic (PMID: 24253414, 27038415). This variant is present in population databases (rs376226764, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PIGN-related conditions. ClinVar contains an entry for this variant (Variation ID: 581123). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000704858 | SCV001523870 | likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2019-09-19 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001585654 | SCV001811750 | likely pathogenic | not provided | 2023-06-16 | 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: 35179230, 31440721, 36322149, 33502061) |
Ce |
RCV001585654 | SCV002585688 | pathogenic | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | PIGN: PVS1, PM2, PM3 |