Submissions for variant NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser)

gnomAD frequency: 0.00016  dbSNP: rs543115615

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV001507361	SCV001712879	uncertain significance	not provided	2023-02-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001507361	SCV002759104	uncertain significance	not provided	2022-06-01	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics	RCV003264047	SCV003945638	uncertain significance	Inborn genetic diseases	2023-04-08	criteria provided, single submitter	clinical testing	The c.2744A>G (p.N915S) alteration is located in exon 20 (coding exon 20) of the PIEZO1 gene. This alteration results from a A to G substitution at nucleotide position 2744, causing the asparagine (N) at amino acid position 915 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001507361	SCV004236071	uncertain significance	not provided	2023-11-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507361	SCV004266510	benign	not provided	2023-03-13	criteria provided, single submitter	clinical testing