ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6899C>G (p.Thr2300Ser)

gnomAD frequency: 0.00002  dbSNP: rs145767108
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003268574 SCV003979052 uncertain significance Inborn genetic diseases 2023-05-28 criteria provided, single submitter clinical testing The c.6560C>G (p.T2187S) alteration is located in exon 42 (coding exon 42) of the PIEZO2 gene. This alteration results from a C to G substitution at nucleotide position 6560, causing the threonine (T) at amino acid position 2187 to be replaced by a serine (S). 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.