Submissions for variant NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002619172	SCV003498015	benign	not provided	2023-12-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002602728	SCV003533981	uncertain significance	Inborn genetic diseases	2022-03-29	criteria provided, single submitter	clinical testing	The c.5564C>T (p.P1855L) alteration is located in exon 39 (coding exon 39) of the PIEZO1 gene. This alteration results from a C to T substitution at nucleotide position 5564, causing the proline (P) at amino acid position 1855 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV002619172	SCV004170947	uncertain significance	not provided	2023-04-28	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV004741403	SCV005353115	uncertain significance	PIEZO1-related disorder	2024-07-17	no assertion criteria provided	clinical testing	The PIEZO1 c.5564C>T variant is predicted to result in the amino acid substitution p.Pro1855Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.