ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)

gnomAD frequency: 0.00001  dbSNP: rs768412580
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Total submissions: 4
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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].
GeneDx 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, University Hospital Tübingen RCV001214967 SCV002759345 pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-12-07 criteria provided, single submitter clinical testing

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