ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) (rs756231749)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518704 SCV000612951 pathogenic not provided 2016-08-19 criteria provided, single submitter clinical testing
Invitae RCV000518704 SCV001209006 pathogenic not provided 2019-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1609*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs756231749, ExAC 0.02%). This variant has been observed in individual(s) with steroid resistant nephrotic syndrome (PMID: 29127259). ClinVar contains an entry for this variant (Variation ID: 447174). Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000668781 SCV000793435 likely pathogenic Alport syndrome, autosomal recessive 2017-08-16 no assertion criteria provided clinical testing

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