Submissions for variant NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)

dbSNP: rs1554688879

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000578637	SCV000681320	pathogenic	not provided	2023-06-26	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30245513)
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197825	SCV001368605	likely pathogenic	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	2020-01-30	criteria provided, single submitter	clinical testing	This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000578637	SCV001447171	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001197825	SCV002023203	pathogenic	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	2019-05-21	criteria provided, single submitter	clinical testing