ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3111+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002866207 SCV003225859 likely pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (PMID: 32896647). 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. Disruption of this splice site has been observed in individual(s) with autosomal recessive spondyloepiphyseal dysplasia and/or Stickler syndrome (PMID: 20179744, 32896647; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 44 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).

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