Submissions for variant NM_001854.4(COL11A1):c.1630-3T>C

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV004771724	SCV005382433	uncertain significance	Stickler syndrome type 2	2023-05-20	criteria provided, single submitter	clinical testing	The observed splice region / intron variant c.1630-3T>C in COL11A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1630-3T>C variant is absent in gnomAD Exomes. This splice region variant in intron 14 affects the position three nucleotides upstream of exon 15. For these reasons, this variant has been classified as Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005061398	SCV005692077	uncertain significance	not provided	2025-01-11	criteria provided, single submitter	clinical testing	This sequence change falls in intron 14 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 present in population databases (rs780935690, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. 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 is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.