ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.1012-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1224451609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058304 SCV001222864 likely pathogenic not provided 2021-12-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 of the COL4A2 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 COL4A2 are known to be pathogenic (PMID: 22333902, 30315939). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL4A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 853489). 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.
GeneDx RCV001058304 SCV002549227 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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