ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg)

gnomAD frequency: 0.00026  dbSNP: rs202210475
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354389 SCV000428117 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000935160 SCV001080901 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000935160 SCV001767511 likely benign not provided 2019-06-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530363 SCV004725012 benign COL4A4-related disorder 2022-12-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017594 SCV004848639 likely benign not specified 2022-03-23 criteria provided, single submitter clinical testing The The p.Gly479Arg variant in COL4A4 is classified as likely benign due to a lack of conservation across species. Over 20 mammals carry a Arginine at this position. In addition, computational prediction tools predict that this variant does not impact the protein. Additionally it has been identified in 0.7% (75/10356) of Ashkenazi Jewish chromosomes by gnomAD ( ACMG/AMP Criteria applied: BP4_Strong, BA1.
Natera, Inc. RCV000354389 SCV001457788 benign Alport syndrome 2019-10-28 no assertion criteria provided clinical testing

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