Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000056526 | SCV003518930 | pathogenic | not provided | 2023-05-22 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 109 of the KRT17 protein (p.Asn109Asp). This variant is present in population databases (rs267607412, gnomAD 0.003%). This missense change has been observed in individual(s) with delayed-onset pachyonychia congenita type II (PMID: 14642066). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 66188). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KRT17 protein function. For these reasons, this variant has been classified as Pathogenic. |
Epithelial Biology; Institute of Medical Biology, |
RCV000056526 | SCV000087637 | not provided | not provided | no assertion provided | not provided |