ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.252del (p.Gly85fs) (rs1569272328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757206 SCV000885350 pathogenic not provided 2018-06-07 criteria provided, single submitter clinical testing The EDA c.252delT; p.Gly85fs variant, also known as 494delT, is reported in the medical literature in individuals with X-linked anhidrotic ectodermal dysplasia (He 2013, Kere 1996). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: He H et al. Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population. PLoS One. 2013 Nov 27;8(11):e80393. Kere J et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996 Aug;13(4):409-16.
Invitae RCV000821716 SCV000962485 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2018-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly85Alafs*6) in the EDA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with hypohidrotic ectodermal dysplasia (HED) (PMID: 8696334, 27305980, Invitae) as well as in an individual with syndromic tooth agenesis including anhidrosis (PMID: 24312213). In addition, this variant was observed to segregate with HED in a family (PMID: 8696334). This variant is also known as c.494delT in the literature. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic.

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