ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)

gnomAD frequency: 0.00058  dbSNP: rs200454769
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000299191 SCV000428193 uncertain significance Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000614849 SCV000727938 likely benign not specified 2018-03-13 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614849 SCV000966408 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Thr1498Thr in exon 49 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.09% (63/66720 ) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs200454769).
Invitae RCV000920677 SCV001066054 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000920677 SCV001143224 likely benign not provided 2019-03-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000299191 SCV001456041 likely benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000920677 SCV001932607 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000920677 SCV001954005 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000920677 SCV001976046 likely benign not provided no assertion criteria provided clinical testing

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