ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.930+189C>T (rs1556425596)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653589 SCV000775472 pathogenic Bethlem myopathy 1 2019-12-11 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the COL6A1 gene. It does not directly change the encoded amino acid sequence of the COL6A1 protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported to be de novo in 16 families affected with Collagen VI related dystrophy (PMID: 28424332). This variant is also known as chr21: 47,409,881 C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 542998). Experimental studies have shown that this intronic change results in splicing-in of a pseudoexon and inclusion of a 24 amino acid segment caused by the creation of a donor splice site, which pairs with an AG splice acceptor site 72 bp upstream and disrupts the Gly-X-Y repeat motif of COL6A1. Analysis of cDNA showed the aberrant transcript is present in muscle samples from affected individuals (PMID: 28424332). For these reasons, this variant has been classified as Pathogenic.
Undiagnosed Diseases Network,NIH RCV000653589 SCV000837714 pathogenic Bethlem myopathy 1 2018-06-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728981 SCV000856611 pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing

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