Submissions for variant NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)

gnomAD frequency: 0.77314  dbSNP: rs10178458

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245465	SCV000302076	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399711	SCV000428149	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	RCV000245465	SCV000711908	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Leu141Pro in exon 7 of COL4A3: This variant is not expected to have clinical s ignificance because it has been identified in 91.36% (7855/8598) of East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs10178458).
GeneDx	RCV000245465	SCV000716955	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	RCV000245465	SCV000841125	benign	not specified	2017-04-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000987045	SCV001136233	benign	Autosomal recessive Alport syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515229	SCV001723260	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000987045	SCV001738088	benign	Autosomal recessive Alport syndrome	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001658136	SCV001876528	benign	Autosomal dominant Alport syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000245465	SCV005087274	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 95% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 88. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001515229	SCV005243309	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000399711	SCV001454000	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000245465	SCV001740665	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000245465	SCV001955488	benign	not specified		no assertion criteria provided	clinical testing