Submissions for variant NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003120283	SCV003800485	uncertain significance	not provided	2022-05-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003410263	SCV004114004	uncertain significance	PIEZO1-related disorder	2022-12-02	criteria provided, single submitter	clinical testing	The PIEZO1 c.7007G>A variant is predicted to result in the amino acid substitution p.Arg2336Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.067% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-88782811-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV003120283	SCV004138121	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	PIEZO1: BP4
Labcorp Genetics (formerly Invitae), Labcorp	RCV003120283	SCV004511223	benign	not provided	2023-07-25	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV003120283	SCV005412508	uncertain significance	not provided	2023-06-26	criteria provided, single submitter	clinical testing	BS2, BP4