ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)

gnomAD frequency: 0.00001  dbSNP: rs1189607438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266707 SCV001444884 pathogenic Inborn genetic diseases 2017-11-06 criteria provided, single submitter clinical testing
Invitae RCV001386469 SCV001586700 pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1450*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alport syndrome (PMID: 33040356). ClinVar contains an entry for this variant (Variation ID: 985677). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002486013 SCV002788100 likely pathogenic Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830069 SCV002076431 pathogenic Alport syndrome 2021-07-01 no assertion criteria provided clinical testing

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