Description
This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg125 amino acid residue in KRT14. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1717157, 16098032). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KRT14 protein function. ClinVar contains an entry for this variant (Variation ID: 66349). This missense change has been observed in individual(s) with autosomal dominant epidermolysis bullosa simplex (PMID: 19854623, 31772641). In at least one individual the variant was observed to be de novo. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 125 of the KRT14 protein (p.Arg125Leu).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
