ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) (rs876657642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214953 SCV000271220 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2015-01-21 criteria provided, single submitter clinical testing The p.Tyr304Ser variant in EDA has not been previously reported in families with clinical features of XLHED or in large population studies. However, two differe nt amino acid changes at the same position (Tyr304Cys, Tyr304Asn) have been iden tified in 3 individuals with X-linked hypohidrotic ectodermal dysplasia (RamaDev i 2008, Schneider 2011, Dietz 2013), suggesting that variants at this position a re not tolerated. Computational prediction tools and conservation analysis sugge st that the p.Tyr304Ser variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additi onal studies are required to fully establish its clinical significance, given th e presence of this variant in this individual's affected brother and the intoler ance of the p.Tyr304 residue to variation, the p.Tyr304Ser variant is likely pat hogenic.

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