ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.232A>G (p.Lys78Glu)

gnomAD frequency: 0.00001  dbSNP: rs776182358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194679 SCV000248517 uncertain significance not specified 2015-06-16 criteria provided, single submitter clinical testing
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford RCV000761571 SCV000891722 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2018-11-26 criteria provided, single submitter research Ventriculomegaly and absent corpus callosum. PIGA deficient B lymphoblasts (JY5) were transfected with wild-type or mutant PIGA expressing plasmids driven by strong, mild or weak promoters. Expression of GPI anchored proteins (CD59/DAF/FLAER) was analysed by FACS. Mutant PIGA could rescue the surface expression of GPI-APs at a similar level to wild-type PIGA. Western blot analysis showed expression of mutant PIGA protein was similar to wild-type.

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