Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002313465 | SCV000848418 | uncertain significance | Inborn genetic diseases | 2016-12-19 | criteria provided, single submitter | clinical testing | The c.4779_4781delGTC variant (also known as p.S1597DEL) is located in coding exon 16 of the KAT6A gene. This variant results from an in-frame GTC deletion at nucleotide positions 4779 to 4781. This results in the in-frame deletion of a serine at codon 1597. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Since clinical data on this variant is limited at this time, its clinical significance is unclear.Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since clinical data on this variant is limited at this time, its clinical significance is unclear. |
| Baylor Genetics | RCV001337004 | SCV001530558 | uncertain significance | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2018-04-18 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Labcorp Genetics |
RCV002533016 | SCV003276260 | likely benign | not provided | 2023-07-30 | criteria provided, single submitter | clinical testing |