Submissions for variant NM_000092.5(COL4A4):c.2439A>T (p.Gly813=)

gnomAD frequency: 0.01612  dbSNP: rs34835657

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245078	SCV000302102	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000359879	SCV000428097	likely benign	Alport syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000245078	SCV000723261	benign	not specified	2017-10-09	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	RCV000710840	SCV000841145	benign	not provided	2018-02-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000245078	SCV000967070	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly813Gly in exon 29 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 5.59% (526/9418) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs34835657).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710840	SCV001111962	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294111	SCV002587157	likely benign	Kidney disorder	2020-07-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710840	SCV005258978	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000359879	SCV001464035	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing