ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3515C>T (p.Pro1172Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337896 SCV004048309 uncertain significance Stickler syndrome type 2 criteria provided, single submitter clinical testing The missense variant c.3551C>T (p.Pro1184Leu) in COL11A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Proline at position 1184 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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