Submissions for variant NM_201384.3(PLEC):c.46C>T (p.Arg16Ter)

dbSNP: rs374419983

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001092984	SCV001249746	pathogenic	not provided	2018-11-01	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV003338451	SCV004047961	pathogenic	Epidermolysis bullosa simplex 5C, with pyloric atresia		criteria provided, single submitter	clinical testing	The stop gained PLEC c.46C>T variant has been reported in individuals affected with Epidermolysis bullosa simplex with pyloric atresia (Zrelski et al, 2021; Gostyńska et. al., 2015). Functional studies related to this variant have showed the expression of plectin isoforms (Gostyńska et. al., 2015; Castañón et. al., 2021). The c.46C>T variant is novel (not in any individuals) in 1000 Genomes and has allele frequency of 0.0008% in gnomAD database. This variant has been reported to the ClinVar database as Pathogenic. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic
OMIM	RCV000186559	SCV000240101	pathogenic	Epidermolysis bullosa simplex with nail dystrophy	2015-06-01	no assertion criteria provided	literature only