ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7520-6T>C

dbSNP: rs2149361702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753324 SCV002007353 uncertain significance not provided 2020-06-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV005213588 SCV005851998 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-03-25 criteria provided, single submitter clinical testing This sequence change falls in intron 47 of the COL12A1 gene. It does not directly change the encoded amino acid sequence of the COL12A1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1318549). 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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