ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1133C>T (p.Thr378Met) (rs1569407346)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707398 SCV000836495 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-10-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 378 of the EDA protein (p.Thr378Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in many individuals and families affected with X-linked hypohidrotic ectodermal dysplasia (PMID: 11378824,  18384562, 18666859, 21457804, 24648697, 26273176) and tooth agenesis (PMID: 23991204). Experimental studies have shown that this missense change alters EDA protein interaction with both EDAR and XEDAR (PMID: 11279189). For these reasons, this variant has been classified as Pathogenic.

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