ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)

gnomAD frequency: 0.00245  dbSNP: rs75398993
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000958596 SCV001105460 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137846 SCV001297832 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.
GeneDx RCV000958596 SCV001900367 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294424 SCV002587384 likely benign Kidney disorder 2018-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533697 SCV004719162 benign COL4A4-related disorder 2022-03-02 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).
Natera, Inc. RCV001137846 SCV001452701 benign Alport syndrome 2020-05-02 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000958596 SCV001953683 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000958596 SCV001965755 likely benign not provided no assertion criteria provided clinical testing

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