ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.347T>C (p.Leu116Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV004821255 SCV005423658 uncertain significance Hearing loss, autosomal dominant 37 2024-11-11 criteria provided, single submitter clinical testing The variant c.347T>C (p.(Leu116Sers)) in exon 3 of the COL11A1-gene is found once in the gnomAD (v4.1.0) database, it affects a highly conserved nucleotide, and a highly conserved amino acid and there is a Large physicochemical difference between Leu and Ser. This variant has a pathogenic computational verdict, based on in silico prediction algorithms. ACMG criteria used for classification: PM2_sup, PP3.
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004821255 SCV005442590 uncertain significance Hearing loss, autosomal dominant 37 2024-12-25 criteria provided, single submitter research The COL11A1 c.347T>C:p.(Leu116Ser) is not found in gnomAD and predicted deleterious. It was detected in heterozygosity in an individual with sloping normal-to-severe HL.

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