ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067599 SCV001232667 uncertain significance Bethlem myopathy 1 2019-12-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the COL6A1 gene (p.Cys810*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 219 amino acids of the COL6A1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the homozygous state in an individual affected with clinical features of type VI collagenopathy (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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