ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys)

dbSNP: rs587777451
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 RCV001836735 SCV002097434 pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24726473, 33726816, 35627109)
3billion RCV002283456 SCV002573018 likely pathogenic Gordon syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PIEZO2 -related disorder (ClinVar ID: VCV000137630 / PMID: 24726473). The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least one similarly affected unrelated individual (PMID: 24726473). Different missense changes at the same codon (p.Arg2799Gly, p.Arg2799His) have been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000137629 , VCV000973945). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000125479 SCV000168931 pathogenic Marden-Walker syndrome 2014-05-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000125479 SCV000281718 pathogenic Marden-Walker syndrome 2014-06-04 no assertion criteria provided research

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.