Submissions for variant NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)

dbSNP: rs56247709

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000317064	SCV000428102	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics	RCV000516706	SCV000612966	benign	not specified	2016-09-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000954392	SCV000717818	benign	not provided	2018-08-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17396119, 20029656)
Eurofins Ntd Llc (ga)	RCV000516706	SCV000855998	benign	not specified	2017-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000516706	SCV000967072	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly789Gly in exon 28 of COL4A4: 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 0.93% (622/66730) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs56247709).
Invitae	RCV000954392	SCV001101022	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001526741	SCV001737206	benign	Autosomal recessive Alport syndrome	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954392	SCV002064014	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	COL4A4: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294293	SCV002587322	benign	Focal segmental glomerulosclerosis	2021-11-23	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000317064	SCV002078899	benign	Alport syndrome	2019-11-01	no assertion criteria provided	clinical testing