Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623870 | SCV000741647 | pathogenic | Inborn genetic diseases | 2016-06-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001091600 | SCV001247733 | pathogenic | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Laboratoire de Génétique Moléculaire, |
RCV001091600 | SCV001468981 | pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
Victorian Clinical Genetics Services, |
RCV000167546 | SCV002769367 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2020-10-19 | 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) 0204 - Variant is predicted to result in a truncated protein with more than 1/3 of the protein affected (exon 17 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) 0601 - Variant affects at least one well-established (essential) functional domain or motif. The variant is located within the transactivation domain which is essential for normal protein function (PMID: 25728777). (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. Many other downstream truncating variants have previously been reported as pathogenic (ClinVar, PMID: 30245513). (P) 0801 - Strong previous evidence of pathogenicity in unrelated individuals. The variant has previously been reported as de novo in multiple patients (ClinVar, PMID: 25728775, PMID: 30245513). (P) 1203 - Variant shown to be de novo in proband (parental status confirmed). (P) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |
Invitae | RCV001091600 | SCV003440699 | pathogenic | not provided | 2022-09-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 180229). This premature translational stop signal has been observed in individual(s) with KAT6A-related conditions (PMID: 25728775, 32041641). In at least one individual the variant was observed to be de novo. This sequence change creates a premature translational stop signal (p.Arg1129*) in the KAT6A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 876 amino acid(s) of the KAT6A protein. |
Revvity Omics, |
RCV000167546 | SCV003820852 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Duke University Health System Sequencing Clinic, |
RCV000167546 | SCV003918910 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2023-04-20 | criteria provided, single submitter | research | |
Institute for Clinical Genetics, |
RCV001091600 | SCV004026464 | pathogenic | not provided | 2022-04-06 | criteria provided, single submitter | clinical testing | PVS1, PM2_SUP, PS3 |
Daryl Scott Lab, |
RCV000167546 | SCV004102699 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2023-11-10 | criteria provided, single submitter | clinical testing | |
DECIPHERD- |
RCV000167546 | SCV004171018 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2023-07-01 | criteria provided, single submitter | research | |
UCLA Clinical Genomics Center, |
RCV000170450 | SCV000196747 | pathogenic | KAT6A syndrome | 2015-01-15 | no assertion criteria provided | clinical testing | |
OMIM | RCV000167546 | SCV000218421 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2015-03-05 | no assertion criteria provided | literature only | |
Centre de Biologie Pathologie Génétique, |
RCV000170450 | SCV001427760 | pathogenic | KAT6A syndrome | 2019-01-01 | no assertion criteria provided | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001091600 | SCV001956450 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001091600 | SCV001968338 | pathogenic | not provided | no assertion criteria provided | clinical testing |