Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824631 | SCV000965536 | pathogenic | Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 128 of the WNT10A protein (p.Arg128Gln). This variant is present in population databases (rs121908121, gnomAD 0.01%). This missense change has been observed in individual(s) with autosomal dominant oligodontia and clinical features of ectodermal dysplasia (PMID: 19559398, 22581971; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4463). 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 WNT10A protein function. For these reasons, this variant has been classified as Pathogenic. |
Centre for Mendelian Genomics, |
RCV000004718 | SCV001367525 | likely pathogenic | Odonto-onycho-dermal dysplasia | 2019-02-20 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PS1. |
Gene |
RCV000059803 | SCV002762100 | likely pathogenic | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | Observed in the heterozygous state in a patient with isolated oligodontia in published literature (Ross et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 19559398, 34228861, 22581971) |
OMIM | RCV000004718 | SCV000024893 | pathogenic | Odonto-onycho-dermal dysplasia | 2012-05-01 | no assertion criteria provided | literature only | |
OMIM | RCV000030651 | SCV000053329 | pathogenic | Tooth agenesis, selective, 4 | 2012-05-01 | no assertion criteria provided | literature only | |
Uni |
RCV000059803 | SCV000091373 | not provided | not provided | no assertion provided | not provided | ||
Diagnostic Laboratory, |
RCV000059803 | SCV001740230 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000059803 | SCV001927530 | pathogenic | not provided | no assertion criteria provided | clinical testing |