ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1122+2T>C

dbSNP: rs1939584878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004528538 SCV002038520 likely pathogenic COL2A1-related disorder 2021-05-11 criteria provided, single submitter clinical testing The COL2A1 c.1122+2T>C variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt the normal gene product. A literature search was conducted for the gene and cDNA change. No publications were identified through this search. The c.1122+2T>C variant is not reported in a the Genome Aggregation Database (version 2.1.1) in a region of good sequencing coverage, indicating it is rare. Based on the limited evidence, the c.1122+2T>C variant is classified as likely pathogenic for COL2A1-related disorders.
Labcorp Genetics (formerly Invitae), Labcorp RCV005095156 SCV005763330 likely pathogenic not provided 2024-08-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18 of the COL2A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1328523). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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