ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.599dup (p.Gly201fs) (rs1556098570)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548188 SCV000630031 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-05-23 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 4 of the EDA mRNA (c.599dupC), causing a frameshift at codon 201. This creates a premature translational stop signal (p.Gly201Argfs*39) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDA are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with hypohidrotic ectodermal dystplasia (PMID: 9736768). This variant has also been reported as c.841insC. For these reasons, this variant has been classified as Pathogenic.

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