ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2809-3C>G

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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 RCV002880659 SCV003234745 pathogenic not provided 2022-09-16 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of autosomal dominant Stickler syndrome (Invitae). In at least one individual the variant was observed to be de novo. This sequence change falls in intron 36 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 not present in population databases (gnomAD no frequency). 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. For these reasons, this variant has been classified as Pathogenic.

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