ClinVar Miner

Submissions for variant NM_033419.5(PGAP3):c.851A>G (p.His284Arg) (rs776720232)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735397 SCV000854552 pathogenic Global developmental delay; Seizures; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate criteria provided, single submitter clinical testing
GeneDx RCV001552976 SCV001773763 pathogenic not provided 2020-04-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30755392, 30919572, 30345601, 26077850, 28794914)
OMIM RCV001194673 SCV001364412 pathogenic Hyperphosphatasia with mental retardation syndrome 4 2020-06-25 no assertion criteria provided literature only

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