Submissions for variant NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)

gnomAD frequency: 0.00142  dbSNP: rs149893977

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192820	SCV000247587	uncertain significance	not specified	2014-12-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314822	SCV000849041	likely benign	Inborn genetic diseases	2016-06-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973168	SCV001120908	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000973168	SCV001849187	benign	not provided	2018-12-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000973168	SCV001926998	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000973168	SCV001971487	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530117	SCV004720172	benign	HUWE1-related disorder	2023-12-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).