Submissions for variant NM_001399.5(EDA):c.458G>A (p.Arg153His)

gnomAD frequency: 0.00106  dbSNP: rs140642493

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990854	SCV001012717	benign	Hypohidrotic X-linked ectodermal dysplasia	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000990854	SCV001141903	uncertain significance	Hypohidrotic X-linked ectodermal dysplasia	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000990854	SCV001653351	benign	Hypohidrotic X-linked ectodermal dysplasia	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV002293495	SCV002586579	uncertain significance	not provided	2022-10-19	criteria provided, single submitter	clinical testing	Observed in the hemizygous state in individuals with ectodermal dysplasia referred for genetic testing at GeneDx and in the published literature, however some individuals also harbored a variant in another ectodermal dysplasia related gene (Keller et al., 2011; Bashyam et al., 2012; Gauzzarotti et al., 2015); The majority of missense variants in this gene are considered pathogenic; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22566850, 27305980, 24724966, 22032522, 34426522, 32960281)
CeGaT Center for Human Genetics Tuebingen	RCV002293495	SCV004165282	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	EDA: BS1, BS2
Natera, Inc.	RCV000990854	SCV002087199	benign	Hypohidrotic X-linked ectodermal dysplasia	2020-06-03	no assertion criteria provided	clinical testing