ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=)

dbSNP: rs1767120492
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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 RCV001247228 SCV001420637 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-08-03 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 is not likely to affect RNA splicing, 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 not present in population databases (ExAC no frequency). This sequence change affects codon 1563 of the COL12A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL12A1 protein.

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