Submissions for variant NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)

gnomAD frequency: 0.00030  dbSNP: rs201746476

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001508787	SCV001477694	uncertain significance	not provided	2020-01-27	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001508787	SCV001715159	uncertain significance	not provided	2020-06-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001508787	SCV003271353	benign	not provided	2023-10-29	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001508787	SCV003812982	uncertain significance	not provided	2022-10-27	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493841	SCV004242747	uncertain significance	not specified	2024-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953632	SCV004777461	uncertain significance	PIEZO1-related disorder	2024-01-23	no assertion criteria provided	clinical testing	The PIEZO1 c.7471C>T variant is predicted to result in the amino acid substitution p.Arg2491Trp. This variant has been reported in an individual with hereditary xerocytosis (Picard et al 2019. PubMed ID: 30655378). This variant is reported in 0.062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.