Submissions for variant NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly)

gnomAD frequency: 0.77323  dbSNP: rs6436669

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242416	SCV000302081	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295878	SCV000428150	benign	Alport syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000242416	SCV000711909	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Glu162Gly in exon 9 of COL4A3: This variant is not expected to have clinical s ignificance because it has been identified in 91.38% (7859/8600) of East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs6436669).
GeneDx	RCV000242416	SCV000730767	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000242416	SCV000841131	benign	not specified	2017-04-28	criteria provided, single submitter	clinical testing
Invitae	RCV001515230	SCV001723261	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527195	SCV001738141	benign	Autosomal recessive Alport syndrome	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001658137	SCV001876639	benign	Autosomal dominant Alport syndrome	2021-07-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001515230	SCV003799841	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000295878	SCV001454003	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000242416	SCV001743059	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000242416	SCV001951637	benign	not specified		no assertion criteria provided	clinical testing