Submissions for variant NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)

gnomAD frequency: 0.00292  dbSNP: rs117475706

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000501821	SCV000593158	uncertain significance	not specified	2016-09-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764902	SCV000896062	uncertain significance	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000950190	SCV001096478	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Undiagnosed Diseases Network, NIH	RCV000764902	SCV002568426	pathogenic	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	2022-06-15	criteria provided, single submitter	clinical testing	Functional studies proved missense was disruptive (PMID: 31451636).
CeGaT Center for Human Genetics Tuebingen	RCV000950190	SCV002821510	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ANK3: BP4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	RCV000764902	SCV004041803	uncertain significance	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	2023-10-09	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535578	SCV004740699	likely benign	ANK3-related disorder	2022-05-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).