ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys)

gnomAD frequency: 0.00068  dbSNP: rs146505418
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811589 SCV001158295 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing The PIEZO1 c.1591C>T; p.Arg531Cys variant (rs146505418), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.047 % (89 / 187,772 alleles) in the Genome Aggregation Database. The arginine at codon 531 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Arg531Cys variant is uncertain at this time.
GeneDx RCV001811589 SCV002552786 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001811589 SCV003265338 benign not provided 2022-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549154 SCV003726177 uncertain significance Inborn genetic diseases 2022-06-06 criteria provided, single submitter clinical testing The c.1591C>T (p.R531C) alteration is located in exon 13 (coding exon 13) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 1591, causing the arginine (R) at amino acid position 531 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001811589 SCV003812991 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811589 SCV005193289 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV001811589 SCV005412561 uncertain significance not provided 2024-04-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740539 SCV005352892 uncertain significance PIEZO1-related disorder 2024-06-07 no assertion criteria provided clinical testing The PIEZO1 c.1591C>T variant is predicted to result in the amino acid substitution p.Arg531Cys. To our knowledge, this variant has not been reported in the literature in individuals with PIEZO1-related disorders. This variant is reported in 0.090% of alleles in individuals of European (Non-Finnish) descent in gnomAD, which may be too common to be causative. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.