ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs)

dbSNP: rs1553758893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671890 SCV000796921 pathogenic Autosomal recessive Alport syndrome 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV001389289 SCV001590598 pathogenic not provided 2020-01-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). This variant has been observed in individual(s) with Alport syndrome (PMID: 24052634). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly680Aspfs*70) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product.

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