ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2510-2A>G (rs760109866)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000681876 SCV001574377 likely pathogenic not provided 2020-03-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 30 of the COL4A5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs760109866, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL4A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 562406). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). 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.
Gharavi Laboratory,Columbia University RCV000681876 SCV000809355 pathogenic not provided 2018-09-16 no assertion criteria provided research

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