Submissions for variant NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala)

gnomAD frequency: 0.03182  dbSNP: rs1800516

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253944	SCV000302095	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263301	SCV000428115	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	RCV000253944	SCV000612961	benign	not specified	2017-07-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000253944	SCV000711887	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly545Ala in exon 23 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 3.93% (2622/66738) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs1800516).
GeneDx	RCV000253944	SCV000713900	benign	not specified	2017-10-05	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.
Eurofins Ntd Llc (ga)	RCV000253944	SCV000859387	benign	not specified	2018-02-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514307	SCV001722117	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294108	SCV002587568	benign	Atypical hemolytic-uremic syndrome	2022-10-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001514307	SCV005242815	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000263301	SCV001464042	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing