Submissions for variant NM_000092.5(COL4A4):c.1323T>C (p.Pro441=)

gnomAD frequency: 0.01576  dbSNP: rs35830639

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243595	SCV000302093	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259682	SCV000428118	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000243595	SCV000711826	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Pro441Pro in exon 20 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 5.16% (498/9646) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs35830639).
GeneDx	RCV000243595	SCV000723939	benign	not specified	2017-10-23	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.
Invitae	RCV000961422	SCV001108468	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294107	SCV002587330	benign	Focal segmental glomerulosclerosis	2021-10-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000961422	SCV004563848	benign	not provided	2023-03-06	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000259682	SCV001464044	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing