ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.607C>T (p.Pro203Ser) (rs397516671)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037181 SCV000060838 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2012-05-18 criteria provided, single submitter clinical testing The Pro203Ser variant in EDA has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. Other mutations affecting nearby residues and also af fecting nearby proline residues have been associated to EDA increasing the likel ihood that this mutation is pathogenic. Furthermore, the presence of this mutati on in a patient with features of hypohidrotic ectodermal dysplasia and an X-link ed family history further supports the likelihood that this variant is pathogeni c. In summary, although additional data is needed to fully assess its clinical s ignificance, this variant is more likely pathogenic.

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