ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu)

gnomAD frequency: 0.00014  dbSNP: rs373706590
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Reproductive Medicine, Peking University Third Hospital RCV001257384 SCV001433912 uncertain significance Hydrops fetalis 2019-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570622 SCV003253711 benign not provided 2022-12-17 criteria provided, single submitter clinical testing
GeneDx RCV002570622 SCV004021730 uncertain significance not provided 2023-01-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30244526, 31680349)
PreventionGenetics, part of Exact Sciences RCV003945950 SCV004757334 likely benign PIEZO1-related disorder 2021-04-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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