ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1630-2del (rs1057517989)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413570 SCV000491292 pathogenic not provided 2018-03-07 criteria provided, single submitter clinical testing The c.1630-2delA variant in the COL11A1 gene has been reported previously in association with type 2 Stickler syndrome (Poulson et al., 2004; Richards et al., 2010; Acke et al., 2014). This variant has also been reported using alternate nomenclature (DelA-2IVS14) in an individual with features overlapping Marshall and Stickler syndrome (Annunen et al., 1999). This splice site variant destroys the canonical splice acceptor site in intron 14 which leads to in-frame skipping of exon 15 (Martin et al., 1999). The abnormal protein product is predicted to have a dominant negative effect (Richards et al., 2010). The c.1630-2delA 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. Therefore, we interpret c.1630-2delA as a pathogenic variant.

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