ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)

gnomAD frequency: 0.00045  dbSNP: rs573353481
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120117 SCV003799600 likely benign not provided 2022-04-06 criteria provided, single submitter clinical testing
GeneDx RCV003120117 SCV004035800 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003120117 SCV004327192 benign not provided 2023-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946438 SCV004761159 likely benign PIEZO1-related disorder 2023-08-04 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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