ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1030-2A>C

dbSNP: rs1553681714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670823 SCV000795727 likely pathogenic Autosomal recessive Alport syndrome 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV001379767 SCV001577632 likely pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 of the COL4A4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Alport syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 555077). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV001829867 SCV002084160 likely pathogenic Alport syndrome 2020-06-25 no assertion criteria provided clinical testing

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