Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000011778 | SCV000630021 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 61 of the EDA protein (p.Tyr61His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ectodermal dysplasia (PMID: 8696334; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as 423T>C. ClinVar contains an entry for this variant (Variation ID: 11031). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic. |
| 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 |