ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)

dbSNP: rs2142820621
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001375989 SCV001572990 likely pathogenic Non-immune hydrops fetalis 2020-06-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001780276 SCV002024608 pathogenic not provided 2023-06-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001780276 SCV002049306 likely pathogenic not provided 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001780276 SCV002246019 pathogenic not provided 2024-03-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 598 of the PIEZO1 protein (p.Val598Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant hereditary xerocytosis (PMID: 28619848, 30655378, 30887001, 31624108). ClinVar contains an entry for this variant (Variation ID: 1065463). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIEZO1 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects PIEZO1 function (PMID: 28619848, 30887001, 31091145). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001780276 SCV002573758 likely pathogenic not provided 2021-12-06 criteria provided, single submitter clinical testing BP4, PM2, PS3, PS4_moderate

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