ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237730 SCV001410504 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2019-09-07 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the EDA mRNA. It is expected to extend the length of the EDA protein by 29 additional amino acid residues. 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 conditions. 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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