ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3883_3892del (p.Ala1295fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003315111 SCV004014676 likely pathogenic Stickler syndrome type 2 2023-04-12 criteria provided, single submitter clinical testing The COL11A1 c.3874_3892delinsT (p.Pro1292_Pro1298delinsSer) variant results in an in-frame deletion of six amino acids and the substitution of proline at amino acid position 1292 with serine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. The p.Pro1292_Pro1298delinsSer variant lies within the triple helix domain of the protein, which interacts with similar domains in collagens encoded by COL2A1 and COL11A2 to form heterotrimeric type XI collagen (PMID: 35741851). Based on the available evidence, the c.3874_3892delinsT (p.Pro1292_Pro1298delinsSer) variant is classified as likely pathogenic for Stickler syndrome.

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