Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214967 | SCV001386679 | 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.Arg55*) 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 (rs768412580, gnomAD 0.03%). 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: 944547). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001214967 | SCV001523868 | 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 |
RCV001836970 | SCV002097481 | likely pathogenic | not provided | 2022-02-09 | 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: 33502061, 31428121) |
Institute of Medical Genetics and Applied Genomics, |
RCV001214967 | SCV002759345 | pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2022-12-07 | criteria provided, single submitter | clinical testing |