Submissions for variant NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter)

dbSNP: rs766500689

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000323922	SCV000330400	pathogenic	not provided	2016-05-02	criteria provided, single submitter	clinical testing	The R66X variant in the EDARADD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R66X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R66X as a pathogenic variant.
Neuberg Centre For Genomic Medicine, NCGM	RCV003338495	SCV004048234	pathogenic	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		criteria provided, single submitter	clinical testing	The stop gained variant c.196C>T (p.Arg66Ter) in EDARADD has been reported to the ClinVar database as Pathogenic (GeneDx, 2019). The variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.0008018% is reported in gnomAD. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay (GeneDx, 2019). For these reasons, this variant has been classified as Pathogenic .