ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.71C>A (p.Ala24Asp)

gnomAD frequency: 0.00001  dbSNP: rs1306259287
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240963 SCV001377095 uncertain significance Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2019-06-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in an individual with clinical features of autosomal recessive ectodermal dysplasia (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 24 of the EDAR protein (p.Ala24Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.

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