ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1013C>T (p.Thr338Met) (rs132630321)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205829 SCV001377106 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 338 of the EDA protein (p.Thr338Met). 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 observed to segregate with isolated tooth agenesis in families (PMID: 18657636, 18545687) and has been observed in individual(s) with hypohidrotic ectodermal dysplasia (PMID: 27657131). ClinVar contains an entry for this variant (Variation ID: 11048). This variant has been reported to affect EDA protein function (PMID: 19623212). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011795 SCV000032027 pathogenic Tooth agenesis, selective, X-linked, 1 2008-11-01 no assertion criteria provided literature only

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