Submissions for variant NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser)

gnomAD frequency: 0.00118  dbSNP: rs11556732

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000514138	SCV000242381	benign	not provided	2020-11-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24594579)
Eurofins Ntd Llc (ga)	RCV000188757	SCV000343496	likely benign	not specified	2016-08-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084603	SCV000554852	likely benign	Episodic kinesigenic dyskinesia	2025-01-25	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514138	SCV000609732	likely benign	not provided	2017-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381638	SCV002692733	uncertain significance	Inborn genetic diseases	2018-07-13	criteria provided, single submitter	clinical testing	The p.P45S variant (also known as c.133C>T), located in coding exon 1 of the PRRT2 gene, results from a C to T substitution at nucleotide position 133. The proline at codon 45 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV000514138	SCV005215748	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004539749	SCV004771928	likely benign	PRRT2-related disorder	2019-07-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).