ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu)

gnomAD frequency: 0.00002  dbSNP: rs1471934686
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001029735 SCV001192522 uncertain significance Lymphatic malformation 6 2019-10-23 criteria provided, single submitter research ACMG codes: PM2, PM3, PP3
GeneDx RCV001546117 SCV001765575 likely pathogenic not provided 2020-07-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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