ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) (rs371334239)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589718 SCV000695382 pathogenic Alport syndrome, autosomal recessive 2016-06-26 criteria provided, single submitter clinical testing Variant summary: The COL4A3 c.1216C>T (p.Arg406X) variant causes a premature termination codon, predicted to cause a truncated or absent COL4A3 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP) and has been reported in an affected individual, who was homozygous for the variant (Heidet_2001). Therefore, taking all the available lines of evidence into consideration, the variant of interest has been classified as Pathogenic.
Invitae RCV001046549 SCV001210454 pathogenic not provided 2020-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg406*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with end stage renal disease or Alport syndrome (PMID: 11134255, 29270492). ClinVar contains an entry for this variant (Variation ID: 495548). 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 RCV000589718 SCV000793366 likely pathogenic Alport syndrome, autosomal recessive 2017-08-23 no assertion criteria provided clinical testing
Natera, Inc. RCV001272227 SCV001454010 pathogenic Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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