Submissions for variant NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)

gnomAD frequency: 0.00081  dbSNP: rs145758265

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724049	SCV000228731	uncertain significance	not provided	2014-09-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000194148	SCV000247585	likely benign	not specified	2015-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317027	SCV000849766	benign	Inborn genetic diseases	2016-10-28	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000724049	SCV001884303	benign	not provided	2020-12-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24307393)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724049	SCV003452817	benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000724049	SCV001800243	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724049	SCV001927380	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724049	SCV001972599	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537419	SCV004745492	benign	HUWE1-related disorder	2019-04-26	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).