ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8319+1G>C

dbSNP: rs1768416586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221494 SCV001393542 likely pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2020-08-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 55 of the COL12A1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 28973083). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GenomeConnect - Invitae Patient Insights Network RCV001535747 SCV001749870 not provided Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 08-12-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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