Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Genetics and Molecular Pathology, |
RCV002272771 | SCV002556957 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2022-05-12 | criteria provided, single submitter | clinical testing | The KAT6A c.1133C>G variant is classified as PATHOGENIC (PVS1, PS2, PM2) The KAT6A c.1133C>G variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 378 (PVS1). This variant has been identified as a de novo variant in this patient (PS2). This variant is not in dbSNP and is absent from population databases (PM2). This variant has not been reported in the ClinVar or HGMD disease databases. |
| Victorian Clinical Genetics Services, |
RCV002272771 | SCV002766714 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2020-05-25 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 7 of 17). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0401 - Variant is located in a gene associated with a severe early-onset dominant condition that is intolerant to loss-of-function variants. (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. Multiple NMD-predicted variants have been reported as pathogenic/likely pathogenic (ClinVar, Deciphering Developmental Disorders Study). (P) 0807 - Variant has not previously been reported in a clinical context. (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |
| Molecular Genetics laboratory, |
RCV003325316 | SCV004031314 | likely pathogenic | not provided | 2018-04-26 | no assertion criteria provided | clinical testing |