Submissions for variant NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)

gnomAD frequency: 0.00118  dbSNP: rs144641429

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117212	SCV000151376	uncertain significance	not provided	2013-11-14	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000299954	SCV000337875	benign	not specified	2015-12-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000117212	SCV001098210	benign	not provided	2024-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354300	SCV002660055	benign	Inborn genetic diseases	2019-09-06	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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252505	SCV001428262	benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000117212	SCV001800217	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000299954	SCV001920002	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000299954	SCV001971262	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925139	SCV004738334	likely benign	HCCS-related disorder	2022-08-10	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).