Submissions for variant NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)

gnomAD frequency: 0.06909  dbSNP: rs34505188

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249936	SCV000302057	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267017	SCV000428158	benign	Alport syndrome	2018-01-12	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.
Athena Diagnostics Inc	RCV000576551	SCV000677170	benign	Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome	2017-04-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000249936	SCV000711877	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Arg408His in exon 21 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 17.54% (2026/11552) of Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs34505188).
GeneDx	RCV000249936	SCV000730392	benign	not specified	2017-08-22	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.
Invitae	RCV001510962	SCV001718129	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527243	SCV001738201	benign	Autosomal recessive Alport syndrome	2021-06-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001510962	SCV002049190	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000267017	SCV001454011	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing