ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr)

gnomAD frequency: 0.15364  dbSNP: rs55703767
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243299 SCV000302090 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306912 SCV000428156 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 RCV000243299 SCV000677179 benign not specified 2021-04-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000243299 SCV000711931 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asp326Tyr in exon 17 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 21.64% (14422/66634) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs55703767).
GeneDx RCV000243299 SCV000732303 benign not specified 2017-05-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514308 SCV001722120 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527204 SCV001738150 benign Autosomal recessive Alport syndrome 2021-06-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000243299 SCV005088023 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 22% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 20. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001514308 SCV005243331 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000306912 SCV001454008 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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