ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del) (rs1602622972)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804623 SCV000944540 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2019-02-11 criteria provided, single submitter clinical testing This variant, c.876_893del, results in the deletion of 6 amino acid(s) of the EDA protein (p.Glu292_Val297del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of ectodermal dysplasia (Invitae) Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the p.Leu293 amino acid residue in EDA. Other variant(s) that disrupt this residue have been observed in individuals with EDA-related conditions (PMID: 26634545, 20979233), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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