ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.617C>T (p.Pro206Leu)

dbSNP: rs1057520742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439320 SCV000517258 likely pathogenic not provided 2021-04-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000526582 SCV000630032 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2016-08-12 criteria provided, single submitter clinical testing Family studies indicate this missense variant likely was not inherited from either parent (i.e. occurred de novo) in an affected individual. For these reasons, this variant has been classified as Likely Pathogenic. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a EDA-related disease. This sequence change replaces proline with leucine at codon 206 of the EDA protein (p.Pro206Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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