Submissions for variant NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)

dbSNP: rs59446030

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573362	SCV002049439	likely benign	not provided	2023-11-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001573362	SCV002251656	uncertain significance	not provided	2024-01-29	criteria provided, single submitter	clinical testing	This variant, c.2268_2270dup, results in the insertion of 1 amino acid(s) of the PIEZO1 protein (p.Glu756dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PIEZO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1206134). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV001573362	SCV004138161	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	PIEZO1: BS1, BS2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001700786	SCV005089848	likely benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573362	SCV001799131	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700786	SCV001922886	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700786	SCV001973396	benign	not specified		no assertion criteria provided	clinical testing