Submissions for variant NM_030632.3(ASXL3):c.6165del (p.Lys2055fs)

dbSNP: rs1555745616

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000523154	SCV000619825	likely pathogenic	not provided	2019-06-18	criteria provided, single submitter	clinical testing	Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 194 amino acids are lost and replaced with 24 incorrect amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect - Simons Searchlight	RCV001265441	SCV001443572	likely pathogenic	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2018-12-21	no assertion criteria provided	provider interpretation	Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-12-21 and interpreted as Likely Pathogenic. Variant was initially reported on 2017-08-31 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. Variant was identified in multiple siblings. Additional phenotypic information for other sibling(s) might be available from Simons Searchlight.