ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) (rs150979437)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241593 SCV000302104 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364192 SCV000428094 benign Alport syndrome 2018-01-12 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.
GeneDx RCV000241593 SCV000718721 likely benign not specified 2018-03-09 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.
Invitae RCV000885126 SCV001028554 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000885126 SCV001143233 benign not provided 2018-10-26 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001089932 SCV001245133 uncertain significance Alport syndrome, autosomal recessive 2020-03-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000241593 SCV001365647 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Arg877Gln in exon 30 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 2.43% (208/8574) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150979437).

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