Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490286 | SCV000267561 | uncertain significance | Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 | 2016-03-18 | criteria provided, single submitter | reference population | |
Gene |
RCV000255246 | SCV000322009 | likely pathogenic | not provided | 2023-04-13 | criteria provided, single submitter | clinical testing | Case-control studies suggest this variant is associated with tooth agenesis (Song et al., 2014); 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: 28265457, 24312213, 30417976, 28981473, 29367877, 24700731, 31103801, 23167694, 34426522, 33034246, 34593752, 36071541, 35546689, 24043634, 24311251, 33329022, 36755192, 36553094) |
Illumina Laboratory Services, |
RCV000335291 | SCV000427550 | benign | Odonto-onycho-dermal dysplasia | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000396415 | SCV000427551 | likely benign | Tooth agenesis, selective, 4 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV000299227 | SCV000427552 | benign | SchC6pf-Schulz-Passarge syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV000490286 | SCV001016930 | benign | Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000335291 | SCV001136220 | uncertain significance | Odonto-onycho-dermal dysplasia | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Stomatology Center, |
RCV003233498 | SCV003930328 | pathogenic | Tooth agenesis, selective, 2 | criteria provided, single submitter | research | We used whole exome sequencing to compare tooth loss gene loci between two brothers with hypophidrotic ectodermal dysplasia (HED), analyze the difference of tooth loss phenotype, and explore its mechanism. wes showed that an EDA mutation was found in both older and younger brothers (c.878T>G), and the compound heterozygous mutation of WNT10A (c.511C>T and c.637G>A) Found only in the elder brothers. Prediction of secondary and tertiary structures of the WNT10A variants (p. R171C, p.G213S) indicated the impaired function of the molecule. The elder brothers have a more severe tooth loss phenotype than younger brothers. It has been reported that eda c.878T>G mutation caused HED (PMID: 30526585). We believe that EDA is the main pathogenic gene in the two patients, and the complex heterozygous WNT10A missense mutation can aggravate the HED phenotype caused by EDA mutation, resulting in a severe edentulous mandible phenotype in the elder brother. | |
Genome Diagnostics Laboratory, |
RCV000255246 | SCV002033986 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000255246 | SCV002035055 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000255246 | SCV002037286 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000255246 | SCV002038432 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Department of Second Dental Center, |
RCV000396415 | SCV004028554 | uncertain significance | Tooth agenesis, selective, 4 | no assertion criteria provided | clinical testing |