ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile)

gnomAD frequency: 0.00001  dbSNP: rs899642068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231726 SCV000637963 uncertain significance Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2017-05-08 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an EDAR-related disease. This sequence change replaces threonine with isoleucine at codon 392 of the EDAR protein (p.Thr392Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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