ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.741G>A (p.Gln247=) (rs886042183)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633505 SCV000754742 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2018-10-10 criteria provided, single submitter clinical testing This sequence change affects codon 247 of the EDA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EDA protein. This variant also falls at the last nucleotide of exon 5 of the EDA coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with ectodermal dysplasia, including an individual in which the variant occurred de novo (PMID: 18666859, 27657131). ClinVar contains an entry for this variant (Variation ID: 528357). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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