ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV002286446 SCV002576360 pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 criteria provided, single submitter clinical testing
GeneDx RCV002293594 SCV002586624 pathogenic not provided 2022-10-24 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 significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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