ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys)

gnomAD frequency: 0.00010  dbSNP: rs761613346
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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 RCV002124871 SCV002403688 benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003015357 SCV003689617 likely benign Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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