Submissions for variant NM_000092.5(COL4A4):c.4548A>G (p.Val1516=)

gnomAD frequency: 0.57766  dbSNP: rs2228555

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250409	SCV000302123	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284418	SCV000428067	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000250409	SCV000711848	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Val1516Val in exon 47 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 77.61% (1026/1322 ) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs2228555).
GeneDx	RCV000250409	SCV000715691	benign	not specified	2017-05-09	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.
Athena Diagnostics Inc	RCV000710855	SCV000841161	benign	not provided	2017-04-03	criteria provided, single submitter	clinical testing
Invitae	RCV000710855	SCV001723250	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543302	SCV001761847	benign	Autosomal recessive Alport syndrome	2021-07-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000284418	SCV001459914	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000250409	SCV001739914	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250409	SCV001960091	benign	not specified		no assertion criteria provided	clinical testing