ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.988C>T (p.Arg330Ter)

gnomAD frequency: 0.00010  dbSNP: rs201317502
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, University of Leipzig Medical Center 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).
GenomeConnect, ClinGen 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.