ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.181T>C (p.Tyr61His) (rs132630308)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000011778 SCV000630021 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 61 of the EDA protein (p.Tyr61His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with ectodermal dysplasia (PMID: 8696334). This variant is also known as 423T>C in the literature. ClinVar contains an entry for this variant (Variation ID: 11031). Family studies have indicated that this variant segregates with ectodermal dysplasia (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763629 SCV000894497 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia; Tooth agenesis, selective, X-linked, 1 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000011778 SCV000032010 pathogenic Hypohidrotic X-linked ectodermal dysplasia 1996-08-01 no assertion criteria provided literature only

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