ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter)

gnomAD frequency: 0.00001  dbSNP: rs1364192556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522861 SCV000619132 likely pathogenic not provided 2021-04-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000522861 SCV001905589 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252152 SCV002523232 likely pathogenic See cases 2019-08-21 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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