ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.221+1dup

dbSNP: rs2147616335
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001999857 SCV002233587 pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1 2021-12-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PIGN-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn75Glufs*6) 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).

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