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 2021-06-07 criteria provided, single submitter clinical testing Experimental studies have shown that this variant affects PIEZO1 protein function (PMID:28619848, 30887001, 31091145). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with hereditary xerocytosis (PMID: 28619848, 31624108, 30655378, 30887001). ClinVar contains an entry for this variant (Variation ID: 1065463). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 598 of the PIEZO1 protein (p.Val598Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.
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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