ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7150G>A (p.Gly2384Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003719776 SCV004510521 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV003719776 SCV005080630 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing Identified in an individual with hereditary stomatosis without additional information available for review [article in Chinese] (PMID: 31340627); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31340627)
PreventionGenetics, part of Exact Sciences RCV004738850 SCV005345278 uncertain significance PIEZO1-related disorder 2024-07-04 no assertion criteria provided clinical testing The PIEZO1 c.7150G>A variant is predicted to result in the amino acid substitution p.Gly2384Ser. This variant has been reported in an individual with stomatocytosis and also reported in a cohort study with isolated fetal edema (Li et al. 2019. PubMed ID: 31340627; Reported as c.100G>A p.Gly34Ser, Table S2, Rogerson et al. 2023. PubMed ID: 36959127). This variant is reported in 0.028% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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