ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)

gnomAD frequency: 0.00048  dbSNP: rs374510402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939773 SCV001085624 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195567 SCV001365960 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro747Pro in exon 28 of COL4A4: 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 0.10% (10/9708) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs374510402).
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001274052 SCV001449254 uncertain significance Alport syndrome 2018-05-03 no assertion criteria provided clinical testing
Natera, Inc. RCV001274052 SCV001457778 likely benign Alport syndrome 2020-01-06 no assertion criteria provided clinical testing

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