ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.164T>A (p.Leu55Gln) (rs397516657)

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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 RCV000037164 SCV000060821 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2011-07-22 criteria provided, single submitter clinical testing The Leu55Gln variant in EDA has not been reported in the literature nor previous ly identified by our laboratory. However, a different amino acid change at the s ame position (Leu55Arg) has been identified in a family with X-linked hypohidrot ic ectodermal dysplasia (Martinez 1999). In addition, this residue is conserved across mammals and computational analyses (PolyPhen2, SIFT) suggest that the Leu 55Gln variant may impact the protein. Furthermore, computational analysis predic t that changing the leucine (Leu) to a glutamine (Gln) at this position will hav e a similar biochemical effect as changing this amino acid to an arginine (Arg). In summary, this data suggests this variant is likely pathogenic.

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