ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.97C>T (p.Arg33Trp) (rs1168030930)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707582 SCV000836683 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2019-09-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 33 of the EDA protein (p.Arg33Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EDA-related disease. 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.

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