ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8320-15_8379delinsCA

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002942873 SCV003272922 likely pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-12-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant results in the deletion of part of exon 56 (c.8320-15_8379delinsCA) of the COL12A1 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 COL12A1 are known to be pathogenic (PMID: 24334604, 28973083).

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