ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter)

dbSNP: rs376226764
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Total submissions: 4
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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].
GeneDx 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)
CeGaT Center for Human Genetics Tuebingen RCV001585654 SCV002585688 pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing PIGN: PVS1, PM2, PM3

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