Submissions for variant NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)

gnomAD frequency: 0.07474  dbSNP: rs34019152

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247022	SCV000302062	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375439	SCV000428163	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	RCV000576304	SCV000677172	benign	Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome	2017-05-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000247022	SCV000711878	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly484Gly in exon 23 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 17.66% (2037/11532 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs34019152).
GeneDx	RCV000247022	SCV000717798	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510963	SCV001718131	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527246	SCV001738204	benign	Autosomal recessive Alport syndrome	2021-06-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494691	SCV002801051	likely benign	Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria	2021-12-22	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000247022	SCV005087921	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 28% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 26. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001510963	SCV005243340	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000375439	SCV001456032	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing