ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)

gnomAD frequency: 0.08050  dbSNP: rs11677877
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244910 SCV000302059 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357978 SCV000428160 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000244910 SCV000711879 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.His451Arg in exon 22 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 17.79% (2042/11476) of Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs11677877).
GeneDx RCV000244910 SCV000730619 benign not specified 2017-09-25 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 RCV000710808 SCV000841113 benign not provided 2017-09-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000244910 SCV000858570 benign not specified 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV000710808 SCV001718130 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527244 SCV001738202 benign Autosomal recessive Alport syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294096 SCV002587290 benign Focal segmental glomerulosclerosis 2022-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000357978 SCV001456029 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000244910 SCV001931363 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000244910 SCV001957064 benign not specified no assertion criteria provided clinical testing

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