ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.6309+1G>A (rs886043919)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705191 SCV000834176 pathogenic Bethlem myopathy 1 2019-06-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18 of the COL6A3 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 been reported to be de novo in an individual affected with autosomal dominant moderately progressive collagen VI myopathy (PMID: 20976770). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL6A3 are known to cause autosomal recessive COL6A3-related disorders (PMID: 20976770). However, splice site variants in COL6A3 have also been reported to cause autosomal dominant COL6A3-related disorders (PMID: 20976770, 15563506, 18366090). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093259 SCV001250155 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing

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