ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.213G>A (p.Pro71=)

gnomAD frequency: 0.00014  dbSNP: rs370553142
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964717 SCV001111951 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001575364 SCV001802339 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427399 SCV002730265 benign Inborn genetic diseases 2017-10-31 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001575364 SCV004143220 benign not provided 2023-10-01 criteria provided, single submitter clinical testing PIGN: BP4, BP7, BS1, BS2

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