ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) (rs73996414)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000345887 SCV000428188 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.
Athena Diagnostics Inc RCV000576378 SCV000677175 benign Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive 2017-06-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600297 SCV000711839 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asp1347Glu in exon 46 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 8.37% (820/9794) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs73996414).
GeneDx RCV000600297 SCV000717866 benign not specified 2017-08-22 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 RCV000948637 SCV001094856 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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