Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Victorian Clinical Genetics Services, |
RCV000191920 | SCV002768700 | pathogenic | Cerebrooculofacioskeletal syndrome 3 | 2020-10-19 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with cerebrooculafacioskeletal syndrome (MIM#616570). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0252 - This variant is homozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (9 heterozygotes, 0 homozygotes). (SP) 0701 - Many pathogenic and likely pathogenic NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity, which have been reported in individuals cerebrooculofacioskeletal syndrome, xeroderma pigmentosum (XP) group G and combined XP/Cockayne syndrome phenotypes (ClinVar, PMID: 30838033). (SP) 0803 - This variant has limited previous evidence of pathogenicity in unrelated individuals. This variant has been reported as homozygous in a family with multiple individuals affected with cerebrooculofacioskeletal syndrome (PMID:24700531). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) – Supporting pathogenic, (I) - Information, (SB) – Supporting benign |
| OMIM | RCV000191920 | SCV000246143 | pathogenic | Cerebrooculofacioskeletal syndrome 3 | 2014-07-01 | no assertion criteria provided | literature only |