ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) (rs1440033157)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667462 SCV000791913 likely pathogenic Alport syndrome, autosomal recessive 2017-05-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV000667462 SCV001150054 pathogenic Alport syndrome, autosomal recessive 2019-06-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000667462 SCV001983759 likely pathogenic Alport syndrome, autosomal recessive 2021-09-29 criteria provided, single submitter clinical testing Variant summary: COL4A3 c.2417dupC (p.Gly807ArgfsX28) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 5.8e-06 in 172936 control chromosomes. c.2417dupC has been reported in the literature in at least one individual affected with Alport Syndrome, Autosomal Recessive (Heidet_2001). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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