ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2295+5C>T

gnomAD frequency: 0.00004  dbSNP: rs369103119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698482 SCV000727514 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Invitae RCV001698482 SCV002254299 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change falls in intron 27 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. This variant is present in population databases (rs369103119, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 515416). 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 is not likely to affect RNA splicing. 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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