Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414606 | SCV000491531 | pathogenic | not provided | 2023-07-22 | 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: 34046058) |
Institute of Human Genetics, |
RCV001723971 | SCV001950032 | pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2023-08-11 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS4_SUP,PM2_SUP |
Invitae | RCV001723971 | SCV004669743 | pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2022-11-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 372986). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with PIGT-related conditions (PMID: 34046058). This variant is present in population databases (rs201317502, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Arg330*) in the PIGT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIGT are known to be pathogenic (PMID: 24906948, 25943031). |
Genome |
RCV000509187 | SCV000606985 | not provided | PIGT-related disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |