ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)

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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 RCV002885152 SCV003239864 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-11-11 criteria provided, single submitter clinical testing 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. 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.Tyr1138*) in the COL12A1 gene. Multiple COL12A1 isoforms have been reported, and the functional impact of this variant is uncertain (PMID: 8601036).

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