ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.2022A>G (p.Leu674=)

gnomAD frequency: 0.00049  dbSNP: rs3764491
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952061 SCV001098527 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884824 SCV004700543 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing PIGN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003903229 SCV004718506 likely benign PIGN-related disorder 2024-02-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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