ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.456G>A (p.Thr152=)

gnomAD frequency: 0.00004  dbSNP: rs776453997
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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 RCV001475311 SCV001679501 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2022-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002342071 SCV002636054 likely benign Inborn genetic diseases 2018-12-12 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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