ClinVar Miner

Submissions for variant NM_057166.5(COL6A3):c.4510_4518CTGGATGGT[1] (p.1504_1506LDG[1]) (rs1553553248)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497331 SCV000590387 likely pathogenic not provided 2017-06-14 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the COL6A3 gene. The c.6340_6348delCTGGATGGT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.6340_6348delCTGGATGGT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.6340_6348delCTGGATGGT variant results in an in-frame deletion of three amino acids, denoted p.Leu2114_Gly2116del. This deletion impacts the Gly-X-Y motif in the triple helical (TH) domain of collagen VI, a region that is well-conserved across species. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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