ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.438+5G>A

dbSNP: rs281874739
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003066360 SCV003445891 uncertain significance not provided 2022-03-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has been observed in individual(s) with clinical features of COL4A5-related conditions (PMID: 31937884; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 7 of the COL4A5 gene. It does not directly change the encoded amino acid sequence of the COL4A5 protein. It affects a nucleotide within the consensus splice site.

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