Submissions for variant NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)

gnomAD frequency: 0.00005  dbSNP: rs587783890

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146525	SCV000193818	uncertain significance	Cornelia de Lange syndrome 1	2013-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002514822	SCV003747197	likely benign	Inborn genetic diseases	2022-08-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000146525	SCV003795934	benign	Cornelia de Lange syndrome 1	2024-01-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917446	SCV004734353	likely benign	NIPBL-related condition	2023-10-09	criteria provided, single submitter	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).