ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3816+5G>A

dbSNP: rs1057524237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418088 SCV000534963 likely pathogenic not provided 2018-04-27 criteria provided, single submitter clinical testing The c.3816+5G>A variant in the COL11A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant destroys the natural the splice donor site in intron 50, and is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. The c.3816+5G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3816+5G>A as a likely pathogenic variant.
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856778 SCV000999334 pathogenic Marshall syndrome criteria provided, single submitter clinical testing
Invitae RCV000418088 SCV002224723 uncertain significance not provided 2021-08-29 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 391809). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 50 of the COL11A1 gene. It does not directly change the encoded amino acid sequence of the COL11A1 protein. It affects a nucleotide within the consensus splice site of the intron.

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