ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1159-1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143691 SCV003834528 likely pathogenic Ehlers-Danlos syndrome, classic type, 2 2022-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003759775 SCV004503377 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2023-02-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 18 of the COL5A2 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 COL5A2 are known to be pathogenic (PMID: 23587214). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. 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.

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