ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)

gnomAD frequency: 0.00109  dbSNP: rs201950081
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508789 SCV001715162 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing
GeneDx RCV001508789 SCV001796639 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing Observed in the heterozygous and homozygous states in multiple patients from a serology study, although clinical details were not provided (Karamatic et al. 2023); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 36122374, 32112123, 30187933, 29396846, 34201899)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001508789 SCV002047879 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing The PIEZO1 c.7180G>A; p.Gly2394Ser variant (rs201950081) is reported in the literature in several individuals affected with dehydrated hereditary stomatocytosis, although its clinical significance was not demonstrated (Andolfo 2021, Russo 2018). This variant is found in the non-Finnish European population with an overall allele frequency of 0.20% (151/74762 alleles, including one homozygote) in the Genome Aggregation Database. The glycine at codon 2394 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.173). Due to limited and conflicting information, the clinical significance of the p.Gly2394Ser variant is uncertain at this time. References: Andolfo I et al. Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients. Genes (Basel). 2021 Jun 23;12(7):958. PMID: 34201899. Russo et al. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Am J Hematol. 2018 May;93(5):672-682. PMID: 29396846.
Invitae RCV001508789 SCV003226329 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing
OMIM RCV003152631 SCV003841037 affects Blood group, ER 2023-01-26 no assertion criteria provided literature only

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