ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly)

gnomAD frequency: 0.00001  dbSNP: rs1174537633
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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 RCV001034403 SCV001197748 benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2024-06-17 criteria provided, single submitter clinical testing
GeneDx RCV004590029 SCV005078893 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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