ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.628G>C (p.Gly210Arg)

dbSNP: rs1556098733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809567 SCV000949721 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2018-09-24 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with EDA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 210 of the EDA protein (p.Gly210Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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