ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.608C>T (p.Pro203Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053348 SCV001217606 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2019-02-18 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 203 of the EDA protein (p.Pro203Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with hypohidrotic ectodermal dysplasia (PMID: 27305980). It has also been observed to segregate with disease in a family (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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