ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)

gnomAD frequency: 0.00012  dbSNP: rs552562531
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001354355 SCV003815436 uncertain significance not provided 2022-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001354355 SCV004277642 benign not provided 2022-11-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001354355 SCV004563719 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036704 SCV005006120 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.7099G>A (p.E2367K) alteration is located in exon 49 (coding exon 49) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 7099, causing the glutamic acid (E) at amino acid position 2367 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001354355 SCV005193616 uncertain significance not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354355 SCV001548951 uncertain significance not provided no assertion criteria provided clinical testing The PIEZO1 p.Glu2367Lys variant was not identified in the literature nor was it identified in the ClinVar, Cosmic, MutDB or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs552562531) and in control databases in 8 of 144132 chromosomes at a frequency of 0.000056 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 1 of 4268 chromosomes (freq: 0.000234), Latino in 2 of 20410 chromosomes (freq: 0.000098), East Asian in 1 of 11666 chromosomes (freq: 0.000086) and European (non-Finnish) in 4 of 57534 chromosomes (freq: 0.00007); it was not observed in the African, Ashkenazi Jewish, European (Finnish), and South Asian populations. The p.Glu2367 residue is not highly conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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.