ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817058 SCV000957596 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1434*) in the COL12A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL12A1-related disease. Loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 28973083). For these reasons, this variant has been classified as Pathogenic.

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