ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.309T>C (p.Ala103=)

gnomAD frequency: 0.00346  dbSNP: rs17069511
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082932 SCV000651235 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712553 SCV000843068 benign not provided 2017-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311871 SCV000846888 benign Inborn genetic diseases 2016-07-08 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.
GeneDx RCV000712553 SCV001936711 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712553 SCV005315415 benign not provided criteria provided, single submitter not provided

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