ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.244C>T (p.Gln82Ter)

dbSNP: rs886041447
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000398849 SCV000330095 pathogenic not provided 2015-12-31 criteria provided, single submitter clinical testing The Q82X pathogenic variant in the COL6A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q82X 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. We interpret Q82X as a pathogenic variant.

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