Submissions for variant NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)

dbSNP: rs121908452

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000255664	SCV000321589	pathogenic	not provided	2022-05-09	criteria provided, single submitter	clinical testing	Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 91 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20979233, 27305980, 21332691, 21457804, 26336973, 24884697, 24719393, 28097853, 10431241, 32906216, 18231121, 17125505)
Invitae	RCV000532015	SCV000637959	pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	2023-12-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg358*) in the EDAR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 91 amino acid(s) of the EDAR protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with hypohidrotic ectodermal dysplasia (PMID: 10431241, 17125505, 24884697, 26336973, 27305980). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5852). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000255664	SCV001245695	pathogenic	not provided	2020-01-01	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV003505080	SCV004244543	pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	2023-12-08	criteria provided, single submitter	clinical testing	PS2, PS4, PM2
OMIM	RCV000006210	SCV000026392	pathogenic	Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant	1999-08-01	no assertion criteria provided	literature only
Department of Prosthodontics, Peking University School and Hospital of Stomatology	RCV001261883	SCV001365406	pathogenic	Non-syndromic oligodontia	2020-04-27	no assertion criteria provided	clinical testing