ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.632C>G (p.Thr211Arg)

dbSNP: rs2147509853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383224 SCV001582310 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2020-10-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EDA protein function. This variant has been observed in individual(s) with clinical features of ectodermal dysplasia (PMID: 20979233, Invitae). This sequence change replaces threonine with arginine at codon 211 of the EDA protein (p.Thr211Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine.

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