ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2984-2A>G

gnomAD frequency: 0.00002  dbSNP: rs760316411
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808468 SCV000948578 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the COL12A1 gene. Multiple COL12A1 isoforms have been reported, and the functional impact of this variant is uncertain (PMID: 8601036). This variant is present in population databases (rs760316411, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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