ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.6282+1G>A (rs398124128)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080964 SCV000331247 pathogenic not provided 2016-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000080964 SCV000330605 pathogenic not provided 2016-06-24 criteria provided, single submitter clinical testing The c.6282+1G>A pathogenic variant in the COL6A3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 17. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.6282+1G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. A splicing variant at the same position (c.6282+1G>C) has been reported as a de novo variant in association with muscular dystrophy (Chae et al., 2015), supporting the functional importance of this splice site and suggesting autosomal dominant inheritance for this variant. We interpret c.6282+1G>A as a pathogenic variant.

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