ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.396+2T>G

dbSNP: rs727504814
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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 RCV000156149 SCV000205864 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2013-11-04 criteria provided, single submitter clinical testing The 396+2T>G variant in EDA has been reported in one individual with X-linked hy pohidrotic ectodermal dysplasia (Bashyam 2012). This variant occurs in the inva riant region (+/- 1,2) of the splice consensus sequence and is predicted to caus e altered splicing leading to an abnormal or absent protein. In summary, this va riant meets our criteria to be classified as pathogenic (http://pcpgm.partners.o rg/LMM)

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