ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.6212_6309+28del (rs1553553313)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653585 SCV000775468 pathogenic Bethlem myopathy 1 2017-12-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing the last 71 nucleotides of exon 17 and all of exon 18 of the COL6A3 gene, including the intron 17, exon 18 boundary (c.6212_6309+29del). This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with COL6A3-related disease. Loss-of-function variants in COL6A3 are known to be pathogenic (PMID: 17886299, 11992252). For these reasons, this variant has been classified as Pathogenic.

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