Submissions for variant NM_031844.3(HNRNPU):c.507G>A (p.Gln169=)

gnomAD frequency: 0.00045  dbSNP: rs139561508

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002525006	SCV000637984	benign	Developmental and epileptic encephalopathy, 54	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314897	SCV000849309	likely benign	Inborn genetic diseases	2016-10-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx	RCV000558591	SCV001935776	benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821448	SCV002068696	benign	not specified	2019-03-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000558591	SCV005260506	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004754457	SCV005365715	likely benign	HNRNPU-related disorder	2024-04-15	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).