ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002988733 SCV003294388 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-07-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met2920Thrfs*7) in the COL12A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 28973083).

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