ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1817-2A>G

dbSNP: rs111697581
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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 RCV001379668 SCV001577508 likely pathogenic Bethlem myopathy 1A 2021-07-20 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL6A2 are known to be pathogenic (PMID: 19884007, 20976770). In addition, donor and acceptor splice site variants in COL6A2 that result in in-frame exon skipping have also been reported to cause autosomal dominant COL6A2-related conditions (PMID: 18366090). This sequence change affects an acceptor splice site in intron 24 of the COL6A2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL6A2-related conditions. 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. 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.
Revvity Omics, Revvity RCV001780298 SCV002019671 pathogenic not provided 2020-08-18 criteria provided, single submitter clinical testing

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