ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)

gnomAD frequency: 0.07474  dbSNP: rs34019152
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247022 SCV000302062 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375439 SCV000428163 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.
Athena Diagnostics RCV000576304 SCV000677172 benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 2017-05-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000247022 SCV000711878 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gly484Gly in exon 23 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 17.66% (2037/11532 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs34019152).
GeneDx RCV000247022 SCV000717798 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 RCV001510963 SCV001718131 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527246 SCV001738204 benign Autosomal recessive Alport syndrome 2021-06-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494691 SCV002801051 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000375439 SCV001456032 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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