ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=)

gnomAD frequency: 0.00001  dbSNP: rs763294691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216842 SCV001388655 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-05-31 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with COL12A1-related conditions. This variant is present in population databases (rs763294691, ExAC 0.002%). This sequence change affects codon 1729 of the COL12A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL12A1 protein.
GeneDx RCV001751407 SCV002005678 uncertain significance not provided 2019-09-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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