ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1505-2A>C

gnomAD frequency: 0.00001  dbSNP: rs1247804051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002552020 SCV003221446 likely pathogenic not provided 2022-09-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 829845). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 23 of the COL4A3 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 COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700).
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029784 SCV001192563 pathogenic Autosomal dominant Alport syndrome 2019-05-23 no assertion criteria provided clinical testing

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