ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1790del (p.Phe597fs)

dbSNP: rs1599531710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000855531 SCV004626860 pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe597Serfs*11) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of PIGN-congenital disorder of glycosylation (PMID: 35179230). ClinVar contains an entry for this variant (Variation ID: 694261). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Cologne University RCV000855531 SCV000998748 likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1 no assertion criteria provided clinical testing

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