ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs) (rs1556092261)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530627 SCV000630024 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2016-04-29 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides and inserts 1 nucleotide in exon 3 of the EDA mRNA (c.521_522delAAinsT), causing a frameshift at codon 174. This creates a premature translational stop signal (p.Lys174Ilefs*106) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in EDA are known to be pathogenic (PMID: 11416205). For these reasons, this variant has been classified as Pathogenic.

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