Submissions for variant NM_201631.4(TGM5):c.104G>A (p.Arg35Gln)

gnomAD frequency: 0.00003  dbSNP: rs749224503

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000520047	SCV000616893	pathogenic	not provided	2023-11-13	criteria provided, single submitter	clinical testing	Identified with a second variant in additional patients with acral peeling skin syndrome referred for genetic testing at GeneDx and in published literature (PMID: 24628291); Published functional studies demonstrate a complete loss of cross-linking activity of the enzyme in transfected epithelial cell lines (PMID: 25644735); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 24628291, 25644735)
Ambry Genetics	RCV000624882	SCV000741602	pathogenic	Inborn genetic diseases	2016-10-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000520047	SCV001978487	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000520047	SCV001979681	pathogenic	not provided		no assertion criteria provided	clinical testing