ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.865C>T (p.Arg289Cys) (rs879255551)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692210 SCV000820022 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2018-07-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 289 of the EDA protein (p.Arg289Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with non-syndromic oligodontia (PMID: 19278982). ClinVar contains an entry for this variant (Variation ID: 253054). Experimental studies have shown that this missense change partially affects EDA function by reducing its receptor binding capability (PMID: 27144394). The p.Arg289 amino acid residue in EDA has been determined to be clinically significant (PMID: 26753551, 24487376). This suggests that variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000239506 SCV000297843 pathogenic Tooth agenesis, selective, X-linked, 1 2016-08-17 no assertion criteria provided literature only

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