ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4390C>T (p.Arg1464Ter) (rs912671116)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579094 SCV000680978 likely pathogenic not provided 2019-01-16 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the COL6A3 gene. The R1464X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1464X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1464X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Furthermore, downstream nonsense variants have been reported in the Human Gene Mutation Database in association with COL6A3-related disorders (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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