ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.670G>C (p.Gly224Arg) (rs1602618398)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822121 SCV000962908 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 224 of the EDA protein (p.Gly224Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be hemizygous in an individual affected with ectodermal dysplasia (Invitae). The observation of one or more missense substitutions at this codon (p.Gly224Ala, p.Gly224Val) in affected individuals suggests that this may be a clinically significant residue (PMID: 9683615, 21357618). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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