ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7950+9A>G

gnomAD frequency: 0.00001  dbSNP: rs778327157
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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 RCV001899905 SCV002123846 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-12-14 criteria provided, single submitter clinical testing This sequence change falls in intron 51 of the COL12A1 gene. It does not directly change the encoded amino acid sequence of the COL12A1 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1361886). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is present in population databases (rs778327157, gnomAD 0.009%).

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