ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000589718 SCV000793366 likely pathogenic Alport syndrome, autosomal recessive 2017-08-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.

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