Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002235071 | SCV000956074 | uncertain significance | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 2018-07-25 | criteria provided, single submitter | clinical testing | 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"). 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 EDAR-related disease. This variant is present in population databases (rs368553609, ExAC 0.02%). This sequence change replaces threonine with lysine at codon 41 of the EDAR protein (p.Thr41Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. |
| Ambry Genetics | RCV003362974 | SCV004061742 | uncertain significance | Inborn genetic diseases | 2023-06-22 | criteria provided, single submitter | clinical testing | The c.122C>A (p.T41K) alteration is located in exon 3 (coding exon 2) of the EDAR gene. This alteration results from a C to A substitution at nucleotide position 122, causing the threonine (T) at amino acid position 41 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |