Submissions for variant NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)

dbSNP: rs1554480537

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000579225	SCV000680987	pathogenic	not provided	2017-06-27	criteria provided, single submitter	clinical testing	The R316X variant in the AUTS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The R316X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R316X as a pathogenic variant.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000677402	SCV001149698	pathogenic	Autism spectrum disorder due to AUTS2 deficiency	2019-06-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000579225	SCV001745987	pathogenic	not provided	2023-03-01	criteria provided, single submitter	clinical testing	AUTS2: PVS1, PS2, PM2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV000677402	SCV003807048	likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	2022-04-28	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1 very strong, PM2 moderated
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV000677402	SCV005418591	pathogenic	Autism spectrum disorder due to AUTS2 deficiency		criteria provided, single submitter	clinical testing	PVS1+PM2_Supporting+PS4_Supporting+PS2_Supporting+PP4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000677402	SCV000803704	pathogenic	Autism spectrum disorder due to AUTS2 deficiency	2018-02-14	no assertion criteria provided	clinical testing