ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.180C>A (p.Cys60Ter)

dbSNP: rs1131692034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genetic Disorders, Banaras Hindu University RCV000494692 SCV000583405 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-02-28 no assertion criteria provided research NM_001399.4:c.180C>A change in EDA is asociated with X-linked Ectodermal dysplasia 1 (Hypohydrotic, hair, tooth type OMIM# 305100) in an Indian family. Only males having this variation was affected none of the females having this variation was affected. This variation was not present in the 100 control individuals. This change is a nonsense mutation leading to termination of protein synthesis at 60th aminoacid (NP_001390.1 p.Cys60*). Clinical significance using online tool MutationTaster (http://www.mutationtaster.org/) and was predicted to be disease causing

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