ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) (rs16823077)

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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 RCV000249358 SCV000302117 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365833 SCV000428077 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 RCV000576699 SCV000677185 benign Alport syndrome, autosomal recessive 2017-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000249358 SCV000717868 benign not specified 2017-11-22 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 RCV000953704 SCV001100286 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000249358 SCV001365649 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Leu1347Leu in exon 42 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 8.15% (780/9572) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs16823077).
Natera, Inc. RCV000365833 SCV001459919 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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