ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.957_957+7del (rs1556425687)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559674 SCV000657085 likely pathogenic Bethlem myopathy 1 2017-04-10 criteria provided, single submitter clinical testing This sequence change deletes 8 nucleotides including a donor splice site in intron 12 of the COL6A1 gene. It is expected to disrupt RNA splicing and likely results in a disrupted protein product. This variant has not been reported in the literature in individuals with a COL6A1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in COL6A1 are known to be pathogenic in autosomal recessive COL6A1-related conditions (PMID: 21280092, 20976770). In addition, donor and acceptor splice site variants in COL6A1 that result in in-frame exon skipping have also been reported to cause autosomal dominant COL6A1-related conditions (PMID: 1788629). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591927 SCV000701063 pathogenic not provided 2015-12-14 criteria provided, single submitter clinical testing

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