ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.833dup (p.Pro279fs)

dbSNP: rs1363680371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490447 SCV000267265 likely pathogenic Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV001202060 SCV001373158 pathogenic not provided 2019-07-29 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 not been reported in the literature in individuals with COL4A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 225321). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro279Alafs*8) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product.

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