ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796327 SCV000935835 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2905*) in the COL12A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs371399251, ExAC 0.006%). This variant has not been reported in the literature in individuals with COL12A1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 24334769, 27159402, 27348394, 224334604). For these reasons, this variant has been classified as Pathogenic.

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