ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.814A>G (p.Asn272Asp) (rs1556106742)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540530 SCV000630036 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2017-06-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 272 of the EDA protein (p.Asn272Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the hemizygous state in an individual with clinical features consistent with ectodermal dysplasia (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on EDA function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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