Submissions for variant NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)

gnomAD frequency: 0.01279  dbSNP: rs13027659

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV004529418	SCV000302108	benign	COL4A4-related disorder	2020-04-15	criteria provided, single submitter	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).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000246929	SCV000713817	benign	not specified	2018-01-20	criteria provided, single submitter	clinical testing	p.Gly999Glu in exon 33 of COL4A4: This variant is not expected to have clinical signficance because it has been identified in 1.9% (2548/12662) of European chro mosomes, including 27 homozygote individuals, by the the Genome Aggregation Data base (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs13027659). ACMG/AMP Cri teria applied: PP3; BA1.
GeneDx	RCV000710843	SCV000730628	benign	not provided	2018-05-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12631110, 27884173, 30467950)
Athena Diagnostics	RCV000710843	SCV000841148	benign	not provided	2017-10-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142711	SCV001303184	uncertain significance	Alport syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV000710843	SCV001723758	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294114	SCV002587554	benign	Atypical hemolytic-uremic syndrome	2022-05-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710843	SCV003916250	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	COL4A4: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710843	SCV004562982	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001142711	SCV002078881	benign	Alport syndrome	2019-11-14	no assertion criteria provided	clinical testing