ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003044705 SCV003349040 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-05-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln1428*) 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). This variant is not present in population databases (gnomAD no frequency).

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