Submissions for variant NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)

dbSNP: rs1555744282

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000624295	SCV000740870	likely pathogenic	Inborn genetic diseases	2019-01-29	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000624922	SCV000807362	pathogenic	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2017-09-01	criteria provided, single submitter	clinical testing	This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory as a de novo finding in a 6-year-old male with intellectual disability, hypotonia, ataxia, abnormal movements, dysmorphic features, failure to thrive, and aggression.
GeneDx	RCV001568093	SCV001791901	pathogenic	not provided	2023-09-27	criteria provided, single submitter	clinical testing	Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 805 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29367179, 34436830, 28100473, 26647312, 30508507)
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000624922	SCV004045857	pathogenic	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2023-01-21	criteria provided, single submitter	clinical testing
OMIM	RCV000624922	SCV000743087	pathogenic	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2020-01-08	no assertion criteria provided	literature only
Diagnostic Laboratory, Strasbourg University Hospital	RCV001249488	SCV001423478	pathogenic	Intellectual disability	2017-12-01	no assertion criteria provided	clinical testing
GenomeConnect - Simons Searchlight	RCV000624922	SCV001443564	likely pathogenic	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2018-11-28	no assertion criteria provided	provider interpretation	Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-11-28 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-05-13 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001568093	SCV001800057	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001568093	SCV001975146	pathogenic	not provided		no assertion criteria provided	clinical testing