ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe)

gnomAD frequency: 0.00002  dbSNP: rs575482829
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763769 SCV002001176 uncertain significance not provided 2020-06-23 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
Revvity Omics, Revvity RCV001763769 SCV003815447 uncertain significance not provided 2022-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001763769 SCV004462273 benign not provided 2023-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040250 SCV005006116 uncertain significance Inborn genetic diseases 2023-11-15 criteria provided, single submitter clinical testing The c.6692C>T (p.S2231F) alteration is located in exon 46 (coding exon 46) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 6692, causing the serine (S) at amino acid position 2231 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.