ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.529+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1553445945
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613299 SCV000711760 pathogenic Ectodermal dysplasia 2016-02-19 criteria provided, single submitter clinical testing The c.529+1G>A variant in EDAR has been reported in 2 individuals with hypohydro tic ectodermal dysplasia (Chassaing 2006) and was absent from large population studies. Both individuals were compound heterozygous with a second variant in ED AR. In addition, this variant occurs in the invariant region (+/- 1/2) of the sp lice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. In summary, this variant meets our criteria to be c lassified as pathogenic for hypohydrotic ectodermal dysplasia in an autosomal re cessive manner.

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